Inborn metabolic diseases: diagnosis and treatment
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| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Berlin, Heidelberg
Springer
2016
|
| Ausgabe: | 6th edition |
| Schlagworte: | |
| Online-Zugang: | Inhaltstext Inhaltsverzeichnis Inhaltsverzeichnis |
| Beschreibung: | XXXI, 658 Seiten Illustrationen 27 cm |
| ISBN: | 9783662497692 3662497697 |
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| 245 | 1 | 0 | |a Inborn metabolic diseases |b diagnosis and treatment |c Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds.) |
| 250 | |a 6th edition | ||
| 264 | 1 | |a Berlin, Heidelberg |b Springer |c 2016 | |
| 300 | |a XXXI, 658 Seiten |b Illustrationen |c 27 cm | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
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| 653 | |a MJG | ||
| 653 | |a MJN | ||
| 653 | |a Disorders of metabolism | ||
| 653 | |a Inborn errors of metabolism | ||
| 653 | |a Inherited metabolic diseases | ||
| 653 | |a Metabolic diseases | ||
| 653 | |a Neonatal Screening | ||
| 653 | |a Newborn Screening | ||
| 689 | 0 | 0 | |a Stoffwechselkrankheit |0 (DE-588)4057700-4 |D s |
| 689 | 0 | 1 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |D s |
| 689 | 0 | |5 DE-604 | |
| 700 | 1 | |a Saudubray, Jean-Marie |d 1937- |0 (DE-588)112194146X |4 edt | |
| 700 | 1 | |a Baumgartner, Matthias R. |d 1966- |0 (DE-588)107577408X |4 edt | |
| 700 | 1 | |a Walter, John |0 (DE-588)1121941885 |4 edt | |
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| 776 | 0 | 8 | |i Erscheint auch als |n Online-Ausgabe |a Saudubray, Jean-Marie; Baumgartner, Matthias R.; Walter, John |t Inborn metabolic diseases |d Berlin, Heidelberg : Springer, 2016 |z 978-3-662-49771-5 |
| 780 | 0 | 0 | |i Vorangegangen ist |z 9783642157196 |
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Datensatz im Suchindex
| _version_ | 1817967961709740032 |
|---|---|
| adam_text |
SECTION I DIAGNOSIS AND TREATMENT: GENERAL PRINCIPLES
1 CLINICAL APPROACH TO INBORN ERRORS OF METABOLISM IN PEDIATRICS
.
3
JEAN-MARIE SAUDUBRAY, ANGELA GARCIA CAZORLA
1.1 C LASSIFICA
TION.
4
1.1.1 PATHOPHYSIOLOGY
.
4
1.1.2 CLINICAL
PRESENTATION.
5
1.2 ANTENATAL S YM PTOM
S.
6
1.3 NEONATAL AND EARLY INFANCY PRESENTATION ( 1 YEAR)
.
8
1.3.1 CLINICAL
PRESENTATION.
8
1.3.2 METABOLIC DERANGEMENTS AND DIAGNOSTIC TESTS
.
14
1.4 LATER ONSET ACUTE AND RECURRENT ATTACKS (LATE INFANCY AND BEYOND)
.
18
1.4.1 CLINICAL PRESENTATIONS
.
18
1.4.2 METABOLIC DERANGEMENTS AND DIAGNOSTIC TESTS
.
26
1.5 CHRONIC AND PROGRESSIVE NEUROLOGICAL SYMPTOMS (MENTAL RETARDATION,
DEVELOPMENTAL DELAY,
EPILEPSY, NEUROLOGICAL DETERIORATION AND PSYCHIATRIC S YM PTOM
S). 32
1.5.1 DIAGNOSTIC APPROACH TO NEUROLOGICAL AND MENTAL DETERIORATION
RELATED TO A G E . 32
1.5.2 SPECIFIC NEUROSENSORIAL, NEUROPHYSIOLOGICAL AND NEURORADIOLOGICAL
SIGNS AND SYMPTOMS (AT ANY AGE) 45
1.5.3 RECOMMENDED LABORATORY TESTS IN NEUROLOGICAL
SYNDROMES.
52
1.6 SPECIFIC ORGAN SIGNS AND S YM PTOM
S.
55
1.6.1 C
ARDIOLOGY.
55
1.6.2
DERMATOLOGY.
55
1.6.3
ENDOCRINOLOGY.
57
1.6.4 GASTROENTEROLOGY AND NUTRITIONAL F INDINGS
.
58
1.6.5 HAEMATOLOGY
.
61
1.6.6
HEPATOLOGY.
63
1.6.7 IM M
UNOLOGY.
64
1.6.8 M
YOLOGY.
65
1.6.9
NEPHROLOGY.
65
1.6.10 NEUROLOGY AND
PSYCHIATRY.
65
1.6.11 OPHTHALMOLOGIC S
IGNS.
65
1.6.12 O RTH O P E D Y
.
66
1.6.13 PNEUM
OLOGY.
68
1.6.14
PSYCHIATRY.
68
1.6.15
RHEUMATOLOGY.
68
1.6.16 STOM
ATOLOGY.
69
REFERENCES.
69
2 INBORN ERRORS OF METABOLISM IN ADULTS: A DIAGNOSTIC APPROACH TO
NEUROLOGICAL
AND PSYCHIATRIC PRESENTATIONS
.
71
FANNY MOCHEL, FREDERIC SEDEL
2.1 DIFFERENCES BETWEEN PAEDIATRIC AND ADULT PHENOTYPES
. 72
2.2 GENERAL APPROACH TO IBM IN A D U LTH O O D
.
72
2.2.1 DISORDERS OF ENERGY
METABOLISM.
72
2.2.2 DISORDERS OF LIPID M ETABOLISM
.
72
2.2.3 INTOXICATION
SYNDROMES.
75
2.2.4 DISORDERS OF NEUROTRANSMITTER M ETABOLISM
.
76
2.2.5 METAL STORAGE
DISORDERS.
76
2.3 SPECIFIC APPROACHES TO NEUROMETABOLIC PRESENTATIONS IN A D U LTS
. 76
2.3.1
ENCEPHALOPATHIES/COMAS.
76
2.3.2 STROKES AND
PSEUDOSTROKES.
77
2.3.3 MOVEMENT
DISORDERS.
77
2.3.4 PERIPHERAL
NEUROPATHIES.
77
2.3.5
LEUKOENCEPHALOPATHIES.
79
2.3.6
EPILEPSY.
81
2.3.7 PSYCHIATRIC
DISORDERS.
82
2.3.8 SPASTIC PARAPARESIS. 84
2.3.9 CEREBELLAR A TA X IA
.
84
2.3.10 M
YOPATHY.
85
2.3.11 O
THERS.
87
REFERENCES.
89
3 D IA G N O S TIC P RO C E D U RE S
.
91
GUY TOUATI, FANNY MOCHEL, DANIEL RABIER
3.1 INTROD
UCTION.
92
3.2 BASAL METABOLIC IN V E S TIG A TIO N
.
92
3.2.1 AMINO AND ORGANIC A C ID S
.
92
3.2.2 METABOLIC PROFILE OVER THE COURSE OF THE D A Y
.
92
3.3 METABOLOMIC APPROACHES: THE EXAMPLE O F IN VITRO 1H-NMR SPECTROSCOPY
OF BODY F LU ID S
.
100
3.4 FUNCTIONAL T E S TS
.
101
3.4.1 FASTING
TEST.
101
3.4.2 ORAL GLUCOSE LOADING
TEST.
103
3.4.3 GLUCAGON T E S
T.
103
3.4.4 PROTEIN AND ALLOPURINOL LOADING
TEST.
103
3.4.5 EXERCISE T E S
T.
104
3.5 NEXT GENERATION SEQUENCING AND GENE P A N E LS
.
104
3.6 POSTMORTEM P
ROTOCOL.
105
3.6.1 CELLS AND TISSUES FOR ENZYME ASSAYS
.
105
3.6.2 CELLS AND TISSUES FOR CHROMOSOME AND DNA
INVESTIGATIONS.
105
3.6.3 SKIN
FIBROBLASTS.
105
3.6.4 BODY FLUIDS FOR CHEMICAL
INVESTIGATIONS.
105
3.6.5 A
UTOPSY.
106
REFERENCES.
107
4 E M ERGENCY TRE A TM E N TS
.
109
MANUEL SCHIFF, FANNY MOCHEL, CARLO D IONISI-VICI
4.1 INTROD
UCTION.
110
4.2 GENERAL P
RINCIPLES.
110
4.2.1 SUPPORTIVE
CARE.
110
4.2.2 NUTRITION
.
110
4.2.3 SPECIFIC
THERAPIES.
110
4.2.4 EXTRACORPOREAL PROCEDURES FOR TOXIN
REMOVAL.
110
4.3 EMERGENCY MANAGEMENT OF PARTICULAR CLINICAL PRESENTATIONS
.
111
4.3.1 NEUROLOGICAL
DETERIORATION.
111
4.3.2 LIVER FAILURE
.
114
4.3.3 NEONATAL
HYPOGLYCAEMIA.
114
4.3.4 CARDIAC
FAILURE.
115
4.3.5 PRIMARY HYPERLACTATAEMIA
.
115
4.3.6 INTRACTABLE
SEIZURES.
115
4.4 FINAL C O NSID ERA TION
S.
115
REFERENCES.
115
SECTION II DISORDERS OF CARBOHYDRATE METABOLISM
5 THE G LYCOGEN S TORA GE DISEASES AN D RELATED D IS O R D E R S
. 121
JOHN WALTER, PHILIPPE LABRUNE, PASCAL LAFORET
5.1 HEPATIC G
LYCOGENOSES.
123
5.1.1 LIVER GLYCOGEN STORAGE DISEASE TYPE 0 (GSD 0 A
).
123
5.1.2 GLYCOGEN STORAGE DISEASE TYPE I (GSD I)
.
123
5.1.3 GLYCOGEN STORAGE DISEASE TYPE III (GSD I I I )
.
127
5.1.4 GLYCOGEN STORAGE DISEASE TYPE IV (GSD I V )
.
128
5.1.5 GLYCOGEN STORAGE DISEASE TYPE VI (GSD V I )
.
129
5.1.6 GLYCOGEN STORAGE DISEASE TYPE IX (GSD IX)
.
129
5.1.7 FANCONI-BICKEL SYNDROM
E.
129
5.2 MUSCLE AND CARDIAC G
LYCOGENOSES.
130
5.2.1 GLYCOGEN STORAGE DISEASE TYPE V (MYOPHOSPHORYLASE DEFICIENCY,
MCARDLE DISEASE)
.
130
5.2.2 DISORDERS OF
GLYCOLYSIS.
131
5.2.3 GLYCOGEN STORAGE DISEASE TYPE II (POMPE
DISEASE).
131
5.2.4 DANON DISEASE (LAMP-2 DEFICIENCY)
.
132
5.2.5 GLYCOGEN DEPLETION SYNDROMES: MUSCLE GLYCOGEN SYNTHASE DEFICIENCY
(MUSCLE GSD TYPE 0, GSD OB)
AND GLYCOGENIN 1
DEFICIENCY.
133
5.2.6 MUSCLE AND CARDIAC GLYCOGENOSIS WITH POLYGLUCOSAN BODIES DUE TO
RBCK1 AND GYG1 MUTATIONS . 133
5.2.7 AMP-ACTIVATED PROTEIN KINASE (AMPK) D
EFICIENCY.
134
5.3 BRAIN
GLYCOGENOSES.
134
5.3.1 LAFORA DISEASE (NEURONAL LAFORIN/MALIN
DEFECTS).
134
5.3.2 ADULT POLYGLUCOSAN BODY
DISEASE.
135
REFERENCES.
135
6 D ISO RD E RS O F G ALACTOSE M E T A B O LIS M
.
139
GERARD T BERRY, JOHN WALTER, JUDITH L FRIDOVICH-KEIL
6.1 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE (GALT)
DEFICIENCY. 141
6.1.1 CLINICAL PRESENTATION OF GALT
DEFICIENCY.
141
6.1.2 METABOLIC DERANGEMENT IN GALT D
EFICIENCY.
142
6.1.3 GENETICS OF GALT D E FICIEN
CY.
142
6.1.4 DIAGNOSTIC TESTS FOR GALT
DEFICIENCY.
142
6.1.5 TREATMENT AND PROGNOSIS FOR GALT D E FICIEN
CY.
143
6.2 URIDINE DIPHOSPHATE GALACTOSE 4'-EPIMERASE (GALE) D E FIC IE N C Y
. 144
6.2.1 CLINICAL PRESENTATION OF GALE
DEFICIENCY.
144
6.2.2 METABOLIC DERANGEMENT IN GALE D
EFICIENCY.
144
6.2.3 GENETICS OF GALE D
EFICIENCY.
145
6.2.4 DIAGNOSTIC TESTS FOR GALE
DEFICIENCY.
145
6.2.5 TREATMENT AND PROGNOSIS FOR GALE D
EFICIENCY.
145
6.3 GALACTOKINASE (GALK) D E FICIE N
CY.
145
6.3.1 CLINICAL PRESENTATION OF GALK
DEFICIENCY.
145
6.3.2 METABOLIC DERANGEMENT IN GALK D
EFICIENCY.
145
6.3.3 GENETICS OF GALK D
EFICIENCY.
145
6.3.4 DIAGNOSTIC TESTS FOR GALK
DEFICIENCY.
146
6.3.5 TREATMENT AND PROGNOSIS FOR GALK D
EFICIENCY.
146
6.4 FANCONI-BICKEL S YND ROM
E.
146
6.5 PORTOSYSTEMIC VENOUS SHUNTING AND HEPATIC ARTERIOVENOUS M ALFORM
ATIONS
.
146
REFERENCES.
146
7 D ISO RD E RS O F G LYCOLYSIS A N D TH E P ENTOSE PHO SPH ATE P ATH W
AY
.
149
MIRJAM M.C. WAMELINK, VASSILI VALAYANNOPOULOS, BARBARA GARAVAGLIA
7.1 MUSCLE PHOSPHOFRUCTOKINASE (PFKM) D EFICIENCY
.
151
7.1.1 CLINICAL
PRESENTATION.
151
7.1.2 METABOLIC DERANGEMENT
.
151
7.1.3
GENETICS.
151
7.1.4 DIAGNOSTIC
TESTS.
152
7.2 ALDOLASE A (ALDOA) D E FIC IE N C Y
.
152
7.2.1 CLINICAL
PRESENTATION.
152
7.2.2 METABOLIC DERANGEMENT
.
152
7.2.3
GENETICS.
152
7.2.4 DIAGNOSTIC
TESTS.
152
7.2.5 TREATMENT AND
PROGNOSIS.
152
7.3 TRIOSEPHOSPHATE ISOMERASE (TPI) DEFICIENCY
.
152
7.3.1 CLINICAL
PRESENTATION.
152
7.3.2 METABOLIC DERANGEMENT
.
152
7.3.3
GENETICS.
153
7.3.4 DIAGNOSTIC
TESTS.
153
7.3.5 TREATMENT AND
PROGNOSIS.
153
7.4 PHOSPHOGLYCERATE KINASE (PGK) D E FIC IE N C Y
.
153
7.4.1 CLINICAL
PRESENTATION.
153
7.4.2 METABOLIC DERANGEMENT
.
153
7.4.3
GENETICS.
153
7.4.4 DIAGNOSTIC
TESTS.
153
7.4.5 TREATMENT AND
PROGNOSIS.
153
7.5 PHOSPHOGLYCERATE MUTASE (PGAM) DEFICIENCY
.
154
7.5.1 CLINICAL
PRESENTATION.
154
7.5.2 METABOLIC DERANGEMENT
.
154
7.5.3
GENETICS.
154
7.5.4 DIAGNOSTIC
TESTS.
154
7.5.5 TREATMENT AND PROGNOSIS
.
154
7.6 ENOLASE D E FIC IE N C Y
.
154
7.6.1 CLINICAL
PRESENTATION.
154
7.6.2 METABOLIC DERANGEMENT
.
154
7.6.3
GENETICS.
154
7.6.4 DIAGNOSTIC
TESTS.
154
7.6.5 TREATMENT AND
PROGNOSIS.
155
7.7 LACTATE DEHYDROGENASE (LDH) D E FIC IE N C Y
.
155
7.7.1 CLINICAL
PRESENTATION.
155
7.7.2 METABOLIC DERANGEMENT
.
155
7.7.3
GENETICS.
155
7.7.4 DIAGNOSTIC
TESTS.
155
7.7.5 TREATMENT AND
PROGNOSIS.
155
7.8 GLYCEROL KINASE DEFICIENCY (G
KD).
155
7.8.1 CLINICAL
PRESENTATION.
155
7.8.2 METABOLIC DERANGEMENT
.
155
7.8.3
GENETICS.
156
7.8.4 DIAGNOSTIC
TESTS.
156
7.8.5 TREATMENT AND
PROGNOSIS.
156
7.9 RIBOSE-5-PHOSPHATE ISOMERASE (RPI) D E FIC IE N C Y
.
156
7.9.1 CLINICAL
PRESENTATION.
156
7.9.2 METABOLIC DERANGEMENT
.
156
7.9.3
GENETICS.
157
7.9.4 DIAGNOSTIC
TESTS.
157
7.9.5 TREATMENT AND
PROGNOSIS.
157
7.10 TRANSALDOLASE (TALDO) D E FIC IE N C Y
.
157
7.10.1 CLINICAL
PRESENTATION.
157
7.10.2 METABOLIC DERANGEMENT
.
157
7.10.3
GENETICS.
157
7.10.4 DIAGNOSTIC
TESTS.
157
7.10.5 TREATMENT AND
PROGNOSIS.
158
7.11 TRANSKETOLASE (TKT) D E FIC IE N C Y
.
158
7.11.1 CLINICAL
PRESENTATION.
158
7.11.2 METABOLIC DERANGEMENT
.
158
7.11.3
GENETICS.
158
7.11.4 DIAGNOSTIC
TESTS.
158
7.11.5 TREATMENT AND
PROGNOSIS.
158
7.12 SEDOHEPTULOKINASE (SHPK) DEFICIENCY
.
158
7.12.1 CLINICAL
PRESENTATION.
158
7.12.2 METABOLIC DERANGEMENT
.
159
7.12.3
GENETICS.
159
7.12.4 DIAGNOSTIC
TESTS.
159
7.12.5 TREATMENT AND
PROGNOSIS.
159
REFERENCES.
159
8 D ISO RD E RS O F F RUCTOSE M E T A B O LIS M
.
161
BEAT STEINMANN, RENE SANTER
8.1 ESSENTIAL F RU CTO SU RIA
.
163
8.1.1 CLINICAL
PRESENTATION.
163
8.1.2 METABOLIC DERANGEMENT
.
163
8.1.3
GENETICS.
163
8.1.4
DIAGNOSIS.
163
8.1.5 TREATMENT AND
PROGNOSIS.
163
8.2 HEREDITARY FRUCTOSE
INTOLERANCE.
163
8.2.1 CLINICAL
PRESENTATION.
163
8.2.2 METABOLIC DERANGEMENT
.
164
8.2.3
GENETICS.
164
8.2.4
DIAGNOSIS.
164
8.2.5 DIFFERENTIAL DIAGNOSIS
.
165
8.2.6 TREATMENT AND
PROGNOSIS.
165
8.3 FRUCTOSE-1,6-BISPHOSPHATASE D E FICIEN
CY.
165
8.3.1 CLINICAL
PRESENTATION.
165
8.3.2 METABOLIC DERANGEMENT
.
166
8.3.3
GENETICS.
166
8.3.4
DIAGNOSIS.
166
8.3.5 DIFFERENTIAL DIAGNOSIS
.
167
8.3.6 TREATMENT AND
PROGNOSIS.
167
REFERENCES.
167
9 C O N G E N ITA L H Y P E RIN S U LIN IS M
.
169
JEAN-BAPTISTE ARNOUX, PASCALE DE LONLAY
9.1 CLINICAL P RE SE N TA TIO N
.
171
9.2 METABOLIC DERANGEM
ENT.
172
9.3 G E N E TIC S
.
172
9.4 DIAGNOSTIC T E S TS
.
172
9.5 TREATMENT AND P RO G N O
SIS.
173
9.6 LONG-TERM MEDICAL M ANAGEM
ENT.
174
9.7 PROGNOSIS
.
174
REFERENCES.
174
10 D ISO RD E RS O F G LUCOSE T RA N S P O RT
.
175
RENE SANTER, JOERG KLEPPER
10.1 CONGENITAL GLUCOSE/GALACTOSE MALABSORPTION (SGLT1 D E FIC IE N C Y
)
.
177
10.1.1 CLINICAL
PRESENTATION.
177
10.1.2 METABOLIC DERANGEMENT
.
177
10.1.3
GENETICS.
177
10.1.4 DIAGNOSTIC
TESTS.
177
10.1.5 TREATMENT AND
PROGNOSIS.
178
10.2 RENAL GLUCOSURIA (SGLT2 D
EFICIENCY).
178
10.2.1 CLINICAL
PRESENTATION.
178
10.2.2 METABOLIC DERANGEMENT
.
178
10.2.3
GENETICS.
178
10.2.4 DIAGNOSTIC
TESTS.
178
10.2.5 TREATMENT AND
PROGNOSIS.
178
10.3 GLUCOSE TRANSPORTER-1 DEFICIENCY (GLUT1 DEFICIENCY)
.
178
10.3.1 CLINICAL
PRESENTATION.
178
10.3.2 METABOLIC DERANGEMENT
.
179
10.3.3
GENETICS.
179
10.3.4 DIAGNOSTIC
TESTS.
179
10.3.5 TREATMENT AND
PROGNOSIS.
179
10.4 FANCONI-BICKEL SYNDROME (GLUT2
DEFICIENCY).
180
10.4.1 CLINICAL
PRESENTATION.
180
10.4.2 METABOLIC DERANGEMENT
.
180
10.4.3
GENETICS.
180
10.4.4 DIAGNOSTIC
TESTS.
180
10.4.5 TREATMENT AND
PROGNOSIS.
181
10.5 ARTERIAL TORTUOSITY SYNDROME (GLUT10 DEFICIENCY)
.
181
10.5.1 CLINICAL
PRESENTATION.
181
10.5.2 METABOLIC DERANGEMENT
.
181
10.5.3
GENETICS.
181
10.5.4 DIAGNOSTIC
TESTS.
181
10.5.5 TREATMENT AND
PROGNOSIS.
181
REFERENCES.
182
SECTION III DISORDERS OF MITOCHONDRIAL ENERGY METABOLISM
11 D ISORDE RS O F P Y RU V A TE M E TA B O LIS M AN D TH E T RIC A RB O
X Y LIC A CID C Y C LE
.
187
LINDA
/.
DE MEIRLEIR, ANGELS GARCIA-CAZORLA, MICHELE BRIVET
11.1 PYRUVATE CARBOXYLASE D E FICIEN
CY.
189
11.1.1 CLINICAL
PRESENTATION.
189
11.1.2 METABOLIC DERANGEMENT
.
189
11.1.3
GENETICS.
190
11.1.4 DIAGNOSTIC
TESTS.
190
11.1.5 TREATMENT AND
PROGNOSIS.
190
11.2 PHOSPHOENOLPYRUVATE CARBOXYKINASE D E FIC IE N C Y
.
192
11.3 PYRUVATE DEHYDROGENASE COMPLEX D E FIC IE N C Y
.
192
11.3.1 CLINICAL
PRESENTATION.
192
11.3.2 METABOLIC DERANGEMENT
.
193
11.3.3
GENETICS.
193
11.3.4 DIAGNOSTIC
TESTS.
193
11.3.5 TREATMENT AND
PROGNOSIS.
194
11.4 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (D L D
).
194
11.4.1 CLINICAL
PRESENTATION.
194
11.4.2 METABOLIC DERANGEMENT
.
194
11.4.3
GENETICS.
194
11.4.4 DIAGNOSTIC
TESTS.
194
11.4.5 TREATMENT AND
PROGNOSIS.
194
11.5 2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY (K D H C
). 195
11.5.1 CLINICAL
PRESENTATION.
195
11.5.2 METABOLIC DERANGEMENT
.
195
11.5.3
GENETICS.
195
11.5.4 DIAGNOSTIC
TESTS.
195
11.5.5 TREATMENT AND
PROGNOSIS.
195
11.6 FUMARASE D E FIC IE N C Y
.
195
11.6.1 CLINICAL
PRESENTATION.
195
11.6.2 METABOLIC DERANGEMENT
.
195
11.6.3
GENETICS.
196
11.6.4 DIAGNOSTIC
TESTS.
196
11.6.5 TREATMENT AND
PROGNOSIS.
196
11.7 SUCCINATE DEHYDROGENASE D E FICIEN
CY.
196
11.7.1 CLINICAL
PRESENTATION.
196
11.7.2 METABOLIC DERANGEMENT
.
196
11.8 OTHER KREBS CYCLE D IS O RD E RS
.
196
11.9 PYRUVATE TRANSPORTER D E FE C
T.
197
11.10 PROTEIN-BOUND LIPOIC ACID DEFECT AND DEFECTS IN COFACTORS
.
197
REFERENCES.
197
12 D ISO RD E RS O F M ITO C H O N D RIA L F A TTY A CID O X ID A TIO N
& R IB O FLA V IN M E TA B O LIS M
.
201
ANDREW A M . M ORRIS, UTE SPIEKERKOETTER
12.1 DISORDERS O F MITOCHONDRIAL FATTY ACID O X ID A TIO N
.
203
12.2 CLINICAL PRESENTATIONS
.
203
12.2.1 FATTY ACID TRANSPORT D E FE
CTS.
203
12.2.2 CARNITINE CYCLE DEFECTS
.
203
12.2.3 SS-OXIDATION D E FE C TS
.
205
12.2.4 ELECTRON TRANSFER D E FE C TS
.
206
12.2.5 OTHER POTENTIAL D E FE
CTS.
206
12.3 METABOLIC DERANGEM
ENT.
206
12.4 G E N E TIC S
.
207
12.5 DIAGNOSTIC T E S TS
.
207
12.5.1 ABNORMAL M
ETABOLITES.
207
12.5.2
IN VITRO
STUDIES.
209
12.5.3 FASTING STUDIES
.
209
12.5.4 PRENATAL D
IAGNOSIS.
209
12.5.5 NEWBORN SCREENING
.
209
12.6 TREATMENT AND P RO G N O
SIS.
209
12.6.1 MANAGEMENT OF ACUTE
ILLNESS.
209
12.6.2 LONG TERM DIETARY MANAGEMENT
.
209
12.6.3 DRUG TREATM
ENT.
210
12.6.4 M ON ITORIN
G.
210
12.6.5
PROGNOSIS.
211
12.7 DEFECTS OF RIBOFLAVIN TRANSPORT & METABOLISM
.
211
12.7.1 BROWN-VIALETTO-VAN LAERE S YNDROM
E.
211
12.7.2 RFVT1 D
EFICIENCY.
212
12.7.3 FAD SYNTHASE AND MITOCHONDRIAL FAD TRANSPORTER DEFICIENCIES
. 212
REFERENCES.
212
13 D ISO RD E RS O F K ETO GEN ESIS A N D K E TO LYSIS
.
215
ANDREW A M . M ORRIS
13.1 KETOGENESIS D E FE C TS
.
217
13.1.1 CLINICAL
PRESENTATION.
217
13.1.2 METABOLIC DERANGEMENT
.
217
13.1.3
GENETICS.
217
13.1.4 DIAGNOSTIC
TESTS.
217
13.1.5 TREATMENT AND
PROGNOSIS.
218
13.2 DEFECTS OF KETONE BODY UTILIZATION OR T RA N S P O
RT.
218
13.2.1 CLINICAL
PRESENTATION.
218
13.2.2 METABOLIC DERANGEMENT
.
219
13.2.3
GENETICS.
219
13.2.4 DIAGNOSTIC
TESTS.
219
13.2.5 TREATMENT AND
PROGNOSIS.
219
13.3 CYTOSOLIC ACETOACETYL-COATHIOLASE D EFICIEN
CY.
220
13.4 KETOGENIC DIETS
.
220
REFERENCES.
220
14 D ISO RD E RS O F O X ID A TIV E P H O S P H O RY LA TIO N
.
223
SHAMIMA RAHMAN, JOHANNES A. M A YR
14.1 CLINICAL P RE S E N TA TIO N
.
225
14.1.1 NEONATAL AND INFANTILE
PRESENTATIONS.
226
14.1.2 PRESENTATION IN CHILDHOOD AND
ADOLESCENCE.
230
14.1.3 ADULT-ONSET
DISORDERS.
231
14.2 METABOLIC DERANGEM
ENT.
231
14.3 G E N E TIC S
.
232
14.3.1 MITOCHONDRIAL DNA M
UTATIONS.
232
14.3.2 NUCLEAR GENE D E FE C TS
.
232
14.3.3 FREQUENCY OF
MUTATIONS.
233
14.4 DIAGNOSTIC T E S TS
.
233
14.4.1 SCREENING T E S TS
.
233
14.4.2 MUSCLE AND OTHER TISSUE
BIOPSIES.
235
14.4.3 MOLECULAR GENETIC
INVESTIGATIONS.
238
14.5 TREATMENT AND P RO G N O
SIS.
238
14.5.1 TREATABLE
DISORDERS.
238
14.5.2 SUPPORTIVE M ANAGEM
ENT.
240
14.5.3 VITAMIN AND COFACTOR
COCKTAILS.
240
14.5.4 EXPERIMENTAL
APPROACHES.
240
14.5.5 GENETIC COUNSELLING AND PRENATAL AND PREIMPLANTATION GENETIC
DIAGNOSIS
.
240
14.5.6
PROGNOSIS.
240
REFERENCES.
241
15 C RE ATIN E D E FIC IE N C Y S Y N D R O M E S
.
243
SYLVIA STOECKLER-IPSIROGLU, SAADET MERCIMEK-MAHMUTOGLU, GAJJA S. SALOMONS
15.1 CLINICAL P RE SE N TA TIO N
.
245
15.1.1 ARGININE GLYCINE AMIDINOTRANSFERASE (AGAT)
DEFICIENCY.
245
15.1.2 GUANIDINOACETATE METHYLTRANSFERASE (GAMT)
DEFICIENCY.
245
15.1.3 CREATINE TRANSPORTER (CRTR) DEFICIENCY
.
245
15.2 METABOLIC DERANGEM
ENT.
245
15.3 G E N E TIC S
.
246
15.4 DIAGNOSTIC T E S TS
.
246
15.4.1 IN VIVO BRAIN M R S
.
246
15.4.2 METABOLITE
ANALYSIS.
246
15.4.3 DNA
ANALYSIS.
246
15.4.4 FUNCTIONAL
TESTS.
247
15.4.5 PRENATAL D
IAGNOSIS.
247
15.4.6 NEWBORN SCREENING
.
247
15.5 TREATMENT AND P RO G N O
SIS.
247
15.5.1 AGAT
DEFICIENCY.
247
15.5.2 GAMT D
EFICIENCY.
247
15.5.3 CRTR
DEFICIENCY.
247
REFERENCES.
247
SECTION IV DISORDERS OF AMINO ACID METABOLISM AND TRANSPORT
16 H Y P E RP H E N Y LA LA N IN A E M IA
.
251
PETER BURGARD, ROBIN H. LACHMANN, JOHN WALTER
16.1 PHENYLALANINE HYDROXYLASE D E FIC IE N C Y
.
253
16.1.1 CLINICAL
PRESENTATION.
253
16.1.2 METABOLIC DERANGEMENT
.
253
16.1.3
GENETICS.
253
16.1.4 DIAGNOSTIC
TESTS.
253
16.1.5 TREATMENT AND
PROGNOSIS.
254
16.2 MATERNAL P K U
.
258
16.2.1 CLINICAL
PRESENTATION.
258
16.2.2 METABOLIC DERANGEMENT
.
258
16.2.3 TREATMENT AND
PROGNOSIS.
258
16.3 HPA AND DISORDERS O F BIOPTERIN M ETABOLISM
.
259
16.3.1 CLINICAL
PRESENTATION.
259
16.3.2 METABOLIC DERANGEMENT
.
259
16.3.3
GENETICS.
259
16.3.4 DIAGNOSTIC AND CONFIRMATORY TE S TS
.
259
16.3.5 TREATMENT AND
PROGNOSIS.
260
REFERENCES.
261
17 DISORDERS OF TYROSINE METABOLISM
.
ANUPAM CHAKRAPANI, PAUL GISSEN, PATRICK MCKIERNAN
17.1 HEREDITARY TYROSINAEMIA TYPE I (HEPATORENAL
TYROSINAEMIA).
17.1.1 CLINICAL
PRESENTATION.
17.1.2 METABOLIC DERANGEMENT
.
17.1.3
GENETICS.
17.1.4 DIAGNOSTIC
TESTS.
17.1.5 TREATMENT AND
PROGNOSIS.
17.2 HEREDITARY TYROSINAEMIA TYPE II (OCULOCUTANEOUS TYROSINAEMIA,
RICHNER-HANHART SYNDROME). .
17.2.1 CLINICAL
PRESENTATION.
17.2.2 METABOLIC DERANGEMENT
.
17.2.3
GENETICS.
17.2.4 DIAGNOSTIC
TESTS.
17.2.5 TREATMENT AND
PROGNOSIS.
17.3 HEREDITARY TYROSINAEMIA TYPE III
.
17.3.1 CLINICAL
PRESENTATION.
17.3.2 METABOLIC DERANGEMENT
.
17.3.3
GENETICS.
17.3.4 DIAGNOSTIC
TESTS.
17.3.5 TREATMENT AND
PROGNOSIS.
17.4 TRANSIENT TYROSINAEMIA
.
17.5 A
LKAPTONURIA.
17.5.1 CLINICAL
PRESENTATION.
17.5.2 METABOLIC DERANGEMENT
.
17.5.3
GENETICS.
17.5.4 DIAGNOSTIC
TESTS.
17.5.5 TREATMENT AND
PROGNOSIS.
17.6 HAWKINSINURIA
.
17.6.1 CLINICAL
PRESENTATION.
17.6.2 METABOLIC DERANGEMENT
.
17.6.3
GENETICS.
17.6.4 DIAGNOSTIC
TESTS.
17.6.5 TREATMENT AND
PROGNOSIS.
REFERENCES.
18 BRANCHED-CHAIN ORGANIC
ACIDURIAS/ACIDAEMIAS.
MANUEL SCHIFF, HELENE OGIER DE BAULNY, CARLO DIONISI-VICI
18.1 MAPLE SYRUP URINE DISEASE, ISOVALERIC ACIDURIA, PROPIONIC ACIDURIA,
METHYLMALONIC ACIDURIA . . .
18.1.1 CLINICAL
PRESENTATION.
18.1.2 METABOLIC DERANGEMENT
.
18.1.3
GENETICS.
18.1.4 DIAGNOSTIC
TESTS.
18.1.5 TREATMENT AND
PROGNOSIS.
18.2 3-METHYLCROTONYL G
LYCINURIA.
18.2.1 CLINICAL
PRESENTATION.
18.2.2 METABOLIC DERANGEMENT
.
18.2.3
GENETICS.
18.2.4 DIAGNOSTIC
TESTS.
18.2.5 TREATMENT AND
PROGNOSIS.
18.3 3-METHYLGLUTACONIC
ACIDURIA.
18.4 SHORT/BRANCHED CHAIN ACYL-COA DEHYDROGENASE
DEFICIENCY.
18.5 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE
DEFICIENCY.
18.6 ISOBUTYRYL-COA DEHYDROGENASE D
EFICIENCY.
18.7 3-HYDROXYISOBUTYRIC A CID U
RIA.
18.8 MALONYL-COA DECARBOXYLASE DEFICIENCY
.
18.9 ACSF3 D
EFICIENCY.
18.10 ENOYL-COA HYDRATASE OR ECHS1
DEFICIENCY.
REFERENCES.
265
267
267
267
268
268
269
270
270
270
271
271
271
271
271
271
271
272
272
272
272
272
272
273
273
273
273
273
273
273
273
274
274
277
279
279
281
282
283
283
288
288
288
288
289
289
289
290
290
290
290
291
291
291
291
19 D ISORDE RS O F TH E UREA CYCLE AN D R ELATED E N Z Y M E S
.
295
JOHANNES HABERLE, VICENTE RUBIO
19.1 M ITOCHONDRIAL UREA CYCLE D IS O RD E RS
.
297
19.1.1 CLINICAL
PRESENTATION.
297
19.1.2 METABOLIC
DERANGEMENTS.
298
19.1.3
GENETICS.
298
19.1.4 DIAGNOSTIC
TESTS.
298
19.1.5 TREATMENT AND
PROGNOSIS.
300
19.2 CYTOSOLIC UREA CYCLE
DISORDERS.
301
19.2.1 CLINICAL
PRESENTATION.
301
19.2.2 METABOLIC
DERANGEMENTS.
302
19.2.3
GENETICS.
302
19.2.4 DIAGNOSTIC
TESTS.
302
19.2.5 TREATMENT AND
PROGNOSIS.
303
19.3 UREA CYCLE M ITOCHONDRIAL TRANSPORTER D E FE C TS
.
303
19.3.1 HYPERORNITHINEMIA, HYPERAMMONAEMIA AND HOMOCITRULLINURIA (HHH)
SYNDROM E
.
303
19.3.2 CITRIN
DEFICIENCY.
303
19.4 UREA CYCLE DEFECTS DUE TO DEFICIENCIES OF ANCILLARY ENZYM
ES. 305
19.4.1 A1-PYRROLINE-5-CARBOXYLATE SYNTHETASE (P5CS)
DEFICIENCY.
305
19.4.2 CARBONIC ANHYDRASE VA (CAVA)
DEFICIENCY.
305
REFERENCES.
306
20 D ISO RD E RS O F S U LFU R A M IN O A CID M E TA B O LIS M
.
309
VIKTOR KOZICH, ANDREW A.
M.
MORRIS, HENK J BLOM
20.1 METHIONINE S-ADENOSYLTRANSFERASE DEFICIENCY (MUDD'S D ISE A SE
). 311
20.1.1 CLINICAL
PRESENTATION.
311
20.1.2 METABOLIC DERANGEMENT
.
311
20.1.3
GENETICS.
311
20.1.4 DIAGNOSTIC
TESTS.
311
20.1.5 TREATMENT AND
PROGNOSIS.
313
20.2 GLYCINE N-METHYLTRANSFERASE D E FIC IE N C Y
.
313
20.2.1 CLINICAL
PRESENTATION.
313
20.2.2 METABOLIC DERANGEMENT
.
313
20.2.3
GENETICS.
313
20.2.4 DIAGNOSTIC
TESTS.
313
20.2.5 TREATMENT AND
PROGNOSIS.
313
20.3 S-ADENOSYLHOMOCYSTEINE HYDROLASE D E FIC IE N C Y
.
313
20.3.1 CLINICAL
PRESENTATION.
313
20.3.2 METABOLIC DERANGEMENT
.
313
20.3.3
GENETICS.
313
20.3.4 DIAGNOSTIC
TESTS.
313
20.3.5 TREATMENT AND
PROGNOSIS.
314
20.4 ADENOSINE KINASE
DEFICIENCY.
314
20.5 CYSTATHIONINE SS-SYNTHASE D E FIC IE N C Y
.
314
20.5.1 CLINICAL
PRESENTATION.
314
20.5.2 METABOLIC DERANGEMENT
.
314
20.5.3
GENETICS.
314
20.5.4 DIAGNOSTIC
TESTS.
315
20.5.5 TREATMENT AND
PROGNOSIS.
316
20.6 CYSTATHIONINE Y-LYASE D
EFICIENCY.
317
20.6.1 CLINICAL
PRESENTATION.
317
20.6.2 METABOLIC DERANGEMENT
.
317
20.6.3
GENETICS.
317
20.6.4 DIAGNOSTIC
TESTS.
317
20.6.5 TREATMENT AND
PROGNOSIS.
317
20.7 MOLYBDENUM COFACTOR D E FIC IE N C Y
.
317
20.7.1 CLINICAL
PRESENTATION.
317
20.7.2 METABOLIE DERANGEMENT
.
317
20.7.3
GENETICS.
317
20.7.4 DIAGNOSTIC
TESTS.
317
20.7.5 TREATMENT AND
PROGNOSIS.
317
20.8 ISOLATED SULFITE OXIDASE D
EFICIENCY.
318
20.8.1 CLINICAL
PRESENTATION.
318
20.8.2 METABOLIE DERANGEMENT
.
318
20.8.3
GENETICS.
318
20.8.4 DIAGNOSTIC
TESTS.
318
20.8.5 TREATMENT AND
PROGNOSIS.
318
20.9 ETHYLMALONIC
ENCEPHALOPATHY.
318
20.9.1 CLINICAL
PRESENTATION.
318
20.9.2 METABOLIC DERANGEMENT
.
318
20.9.3
GENETICS.
318
20.9.4 DIAGNOSTIC
TESTS.
318
20.9.5 TREATMENT AND P
ROGNOSIS.
318
REFERENCES.
319
21 D ISO RD E RS O F O RN ITH IN E AN D P RO LIN E M E T A B O LIS M
.
321
M ATTHIAS R. BAUMGARTNER, D AVID VALLE, CARLO DIONISI-VICI
21.1 HYPERORNITHINAEMIA DUE TO ORNITHINE AMINOTRANSFERASE DEFICIENCY
(GYRATE ATROPHY
OF THE CHOROID AND R E TIN A
).
323
21.2 HYPERORNITHINAEMIA, HYPERAMMONAEMIA AND HOM OCITRULLINURIA (HHH) S
YND ROM E
.
325
21.3 A1-PYRROLINE-5-CARBOXYLATE SYNTHETASE D E FIC IE N C Y
.
327
21.4 A1 -PYRROLINE-5-CARBOXYLATE REDUCTASE DEFICIENCY 1 (PYCR1) AND 2
(PYCR2). 328
21.5 PROLINE OXIDASE DEFICIENCY (HYPERPROLINAEMIA TYPE I )
.
328
21.6 A1 -PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY
(HYPERPROLINAEMIA TYPE I I )
.
329
21.7 PROLIDASE D E FIC IE N C Y
.
329
21.8 SPERMINE SYNTHASE DEFICIENCY (SNYDER ROBINSON SYNDROME)
. 330
REFERENCES.
330
22 C EREBRAL O RG A N IC A CID D ISO RD E RS AN D O TH E R D ISO RD E RS
O F LYSINE C A TA B O LISM
.
333
GEORG F. HOFFMANN, STEFAN KOELKER
22.1 IN TRO D U C TIO N
.
335
22.2 HYPERLYSINAEM
IA/SACCHAROPINURIA.
337
22.2.1 CLINICAL
PRESENTATION.
337
22.2.2 METABOLIC DERANGEMENT
.
337
22.2.3
GENETICS.
338
22.2.4 DIAGNOSTIC
TESTS.
338
22.2.5 TREATMENT AND
PROGNOSIS.
338
22.3
HYDROXYLYSINURIA.
338
22.4 2-AMINO-/2-OXOADIPIC A C ID U RIA
.
338
22.4.1 CLINICAL
PRESENTATION.
338
22.4.2 METABOLIC DERANGEMENT
.
338
22.4.3
GENETICS.
339
22.4.4 DIAGNOSTIC
TESTS.
339
22.4.5 TREATMENT AND
PROGNOSIS.
339
22.5 GLUTARIC ACIDURIA TYPE I
.
339
22.5.1 CLINICAL
PRESENTATION.
339
22.5.2 METABOLIC DERANGEMENT
.
340
22.5.3
GENETICS.
340
22.5.4 DIAGNOSTIC
TESTS.
340
22.5.5 TREATMENT AND
PROGNOSIS.
341
22.6 GLUTARIC ACIDURIA TYPE I II
.
342
22.6.1 CLINICAL
PRESENTATION.
342
22.6.2 METABOLIC DERANGEMENT
.
342
22.6.3
GENETICS.
342
22.6.4 DIAGNOSTIC
TESTS.
342
22.6.5 TREATMENT AND
PROGNOSIS.
342
22.7 L-2-HYD ROXYG I
U TA R IC A
CIDURIA.
342
22.7.1 CLINICAL
PRESENTATION.
342
22.7.2 METABOLIE DERANGEMENT
.
343
22.7.3
GENETICS.
343
22.7.4 DIAGNOSTIC
TESTS.
.
. 343
22.7.5 TREATMENT AND
PROGNOSIS.
343
22.8 D-2-HYDROXYGLUTARIC A C ID U RIA
.
343
22.8.1 CLINICAL
PRESENTATION.
343
22.8.2 METABOLIC DERANGEMENT
.
343
22.8.3
GENETICS.
344
22.8.4 DIAGNOSTIC
TESTS.
344
22.8.5 TREATMENT AND
PROGNOSIS.
344
22.9 D-2-/L-2-HYDROXYGLUTARIC A C ID U RIA
.
344
22.9.1 CLINICAL
PRESENTATION.
344
22.9.2 METABOLIC DERANGEMENT
.
344
22.9.3
GENETICS.
344
22.9.4 DIAGNOSTIC
TESTS.
344
22.9.5 TREATMENT AND
PROGNOSIS.
344
22.10 N-ACETYLASPARTIC ACIDURIA (CANAVAN D
ISEASE).
344
22.10.1 CLINICAL
PRESENTATION.
344
22.10.2 METABOLIC DERANGEMENT
.
345
22.10.3
GENETICS.
345
22.10.4 DIAGNOSTIC
TESTS.
345
22.10.5 TREATMENT AND
PROGNOSIS.
345
22.11 AMINOACYLASE 1 D E FICIE N
CY.
345
22.11.1 DIAGNOSTIC
TESTS.
346
22.11.2 TREATMENT AND
PROGNOSIS.
346
22.12 HYPOACETYLASPARTIA AND ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY
. 346
REFERENCES.
346
23 N O N K E TO TIC H Y P E RG LY C IN E M IA (G LYCINE E NCE P H A LO P
A TH Y) AN D L IP O A TE D E FIC IE N C Y
D IS O RD E RS
.
349
JOHAN L.K. VAN HOVE, JULIA B. HENNERMANN, CURTIS R. COUGHLIN I I
23.1 INTRODUCTION: D E FIN ITIO N S
.
350
23.2 CLINICAL P RE SE N TA TIO N
.
351
23.2.1 SEVERE CLASSIC N K H
.
351
23.2.2 ATTENUATED CLASSIC N K H
.
351
23.2.3 LIPOATE DISORDERS INCLUDING VARIANT NKH
.
352
23.3 METABOLIC DERANGEM
ENT.
352
23.4 G E N E TIC S
.
353
23.5 DIAGNOSTIC T E S TS
.
353
23.6 T RE A TM E N
T.
354
23.7 PROGNOSIS
.
355
REFERENCES.
355
24 D ISORDE RS O F G LU TA M IN E , S ERINE AN D A S P A RA G IN E M E
TA B O LIS M
.
357
JAAK JAEKEN, JOHANNES HAEBERLE, O LIVIER DULAC
24.1 GLUTAMINE SYNTHETASE
DEFICIENCY.
359
24.2 INBORN ERRORS O F SERINE METABOLISM
.
359
24.2.1 3-PHOSPHOGLYCERATE DEHYDROGENASE
DEFICIENCY.
359
24.2.2 PHOSPHOSERINE AMINOTRANSFERASE
DEFICIENCY.
360
24.2.3 3-PHOSPHOSERINE PHOSPHATASE
DEFICIENCY.
360
24.2.4 BRAIN SERINE TRANSPORTER
DEFICIENCY.
360
24.2.5 SERINE PALMITOYLTRANSFERASE
DEFECTS.
361
24.3 ASPARAGINE SYNTHETASE D E FICIE N
CY.
361
REFERENCES.
361
25 D IS O RD E RS O F A M IN O A CID T RA N S P O RT A T TH E CELL M E M
B R A N E
.
363
K IRSTI NAENTOE-SALONEN, MANUEL SCHIFF H A RRI NIINIKOSKI
25.1 C Y S TIN U RIA
.
365
25.1.1 CLINICAL
PRESENTATION.
365
25.1.2 METABOLIC DERANGEMENT
.
365
25.1.3
GENETICS.
365
25.1.4 DIAGNOSTIC
TESTS.
365
25.1.5 TREATMENT AND
PROGNOSIS.
366
25.2 LYSINURIC PROTEIN
INTOLERANCE.
367
25.2.1 CLINICAL
PRESENTATION.
367
25.2.2 METABOLIC DERANGEMENT
.
367
25.2.3
GENETICS.
368
25.2.4 DIAGNOSTIC
TESTS.
368
25.2.5 TREATMENT AND
PROGNOSIS.
368
25.3 HARTNUP D
ISEASE.
369
25.3.1 CLINICAL
PRESENTATION.
369
25.3.2 METABOLIC DERANGEMENT
.
369
25.3.3
GENETICS.
369
25.3.4 DIAGNOSTIC
TESTS.
369
25.3.5 TREATMENT AND
PROGNOSIS.
370
25.4 ASYMPTOMATIC AMINOACIDURIAS: IMINOGLYCINURIA AND DICARBOXYLIC AM
INOACIDURIA
.
370
REFERENCES.
370
SECTION V VITAMIN-RESPONSIVE DISORDERS
26 B IO TIN -RE S P O N S IV E D IS O RD E RS
.
375
M ATTHIAS R. BAUMGARTNER, TERTTU SUORMALA
26.1 CLINICAL P RE S E N TA TIO N
.
377
26.1.1 HOLOCARBOXYLASE SYNTHETASE
DEFICIENCY.
378
26.1.2 BIOTINIDASE
DEFICIENCY.
378
26.2 METABOLIC DERANGEM
ENT.
378
26.3 G E N E TIC S
.
379
26.3.1 HOLOCARBOXYLASE SYNTHETASE
DEFICIENCY.
379
26.3.2 BIOTINIDASE
DEFICIENCY.
379
26.4 DIAGNOSTIC T E S TS
.
379
26.4.1 HOLOCARBOXYLASE SYNTHETASE
DEFICIENCY.
380
26.4.2 BIOTINIDASE
DEFICIENCY.
380
26.4.3 ACQUIRED BIOTIN D
EFICIENCY.
380
26.4.4 PRENATAL D
IAGNOSIS.
380
26.5 TREATMENT AND P RO G N O
SIS.
380
26.5.1 HOLOCARBOXYLASE SYNTHETASE D
EFICIENCY.
381
26.5.2 BIOTINIDASE
DEFICIENCY.
381
REFERENCES.
382
27 D ISORDE RS O F C O B A LA M IN AN D F OLATE T RA N S P O RT A N D M
E TA B O LIS M . 385
D AVID WATKINS, D AVID S. ROSENBLATT, BRIAN FOWLER
27.1 DISORDERS OF ABSORPTION AND TRANSPORT OF COBALAM
IN.
387
27.1.1 HEREDITARY INTRINSIC FACTOR DEFICIENCY
.
387
27.1.2 DEFECTIVE TRANSPORT OF COBALAMIN BY ENTEROCYTES
(IMERSLUND-GRAESBECK SYNDROME)
.
387
27.1.3 HAPTOCORRIN (R BINDER)
DEFICIENCY.
388
27.1.4 TRANSCOBALAMIN
DEFICIENCY.
388
27.1.5 TRANSCOBALAMIN RECEPTOR
DEFICIENCY.
389
27.2 DISORDERS O F INTRACELLULAR UTILISATION OF COBALAMIN
.
389
27.2.1 COMBINED DEFICIENCIES OF ADENOSYLCOBALAMIN AND METHYLCOBALAMIN
.
389
27.2.2 ADENOSYLCOBALAMIN D E FICIEN
CY.
392
27.2.3 METHYLCOBALAMIN
DEFICIENCY.
392
27.3 DISORDERS O F ABSORPTION AND METABOLISM OF F O LA TE
.
394
27.3.1 HEREDITARY FOLATE MALABSORPTION
.
394
27.3.2 CEREBRAL FOLATE DEFICIENCY
.
394
27.3.3 METHYLENETETRAHYDROFOLATE DEHYDROGENASE (MTHFD1) DEFICIENCY
.
395
27.3.4 DIHYDROFOLATE REDUCTASE D E FICIEN
CY.
395
27.3.5 GLUTAMATE FORMIMINOTRANSFERASE
DEFICIENCY.
396
27.3.6 METHYLENETETRAHYDROFOLATE REDUCTASE
DEFICIENCY.
396
REFERENCES.
397
28 D ISO RD E RS O F TH IA M IN E AN D P Y RID O X IN E M E TA B O LIS M
. 401
GARRY BROWN, BARBARA PLECKO
28.1 DISORDERS O F THIAMINE (VITAMIN B
T
) M E TA B O LIS M
.
402
28.1.1 THIAMINE TRANSPORTER 1 (THTR1)
DEFICIENCY.
403
28.1.2 THIAMINE TRANSPORTER 2 (THTR2)
DEFICIENCY.
404
28.1.3 THIAMINE PYROPHOSPHOKINASE
DEFICIENCY.
404
28.1.4 MITOCHONDRIAL TPP TRANSPORTER
DEFICIENCY.
405
28.1.5 THIAMINE-RESPONSIVE A-KETOACID DEHYDROGENASE DEFICIENCIES
. 405
28.1.6 THIAMINE-RESPONSIVE PYRUVATE DEHYDROGENASE DEFICIENCY
.
405
28.1.7 THIAMINE-RESPONSIVE MAPLE SYRUP URINE
DISEASE.
406
28.2 VITAMIN B6 M ETABOLISM
.
407
28.2.1 ANTIQUITIN
DEFICIENCY.
408
28.2.2 HYPERPROLINEMIATYPE I I
.
409
28.2.3 PYRIDOX(AM)INE S'-PHOSPHATE OXIDASE (PNPO) D
EFICIENCY.
410
28.2.4 CONGENITAL
HYPOPHOSPHATASIA.
410
28.2.5 HYPERPHOSPHATASIA-MENTAL RETARDATION SYNDROME
(HPMRS).
410
28.2.6 OTHER B6 RESPONSIVE
DISORDERS.
410
REFERENCES.
411
SECTION VI NEUROTRANSMITTER AND SMALL PEPTIDE DISORDERS
29 D ISO RD E RS O F N E U RO TRA N S M IS S IO N
.
415
ANGELS GARDA-CAZORLA, RAFAEL ARTUCH, K. MICHAEL GIBSON
29.1 INBORN ERRORS O F GAMMA AMINO BUTYRIC ACID M E TA B O LIS M
. 417
29.1.1 GAMMA AMINO BUTYRIC ACID TRANSAMINASE D E FICIE N
CY.
417
29.1.2 SUCCINIC SEMIALDEHYDE DEHYDROGENASE
DEFICIENCY.
418
29.1.3
HOMOCARNOSINOSIS.
418
29.2 INBORN ERRORS O F RECEPTORS AND TRANSPORTERS O F NEUROTRANSM
ITTERS. 419
29.2.1
HYPEREKPLEXIA.
419
29.2.2 GABA RECEPTOR MUTATIONS
.
420
29.2.3 GLUTAMATE RECEPTOR MUTATIONS
.
420
29.2.4 MITOCHONDRIAL GLUTAMATE TRANSPORTER
DEFECT.
420
29.2.5 DOPAMINE TRANSPORTER D E FE C
T.
421
29.2.6 BRAIN DOPAMINE-SEROTONIN VESICULARTRANSPORT D E FE
CT.
421
29.3 INBORN ERRORS O F MONOAMINE METABOLISM
.
421
29.3.1 TYROSINE HYDROXYLASE DEFICIENCY
.
421
29.3.2 AROMATIC L-AMINOACID DECARBOXYLASE
DEFICIENCY.
422
29.3.3 DOPAMINE SS-HYDROXYLASE
DEFICIENCY.
423
29.3.4 MONOAMINE OXIDASE-A D E FICIEN
CY.
423
29.3.5 GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE-I DEFICIENCY
.
424
29.3.6 SEPIAPTERINE REDUCTASE
DEFICIENCY.
425
REFERENCES.
425
30 T RIM E TH Y LA M IN U RIA , D IM E TH Y LG LY C IN E D E HYD RO G E
N A SE D E FIC IE N C Y A N D D ISORDE RS
IN TH E M E TA B O LIS M O F G LU TA TH IO N E
.
429
VALERIE WALKER, RON A WEVERS, ERTAN MAYATEPEK
30.1 TRIMETHYLAMINURIA (FISH MALODOUR S Y N D RO M E
).
431
30.1.1 CLINICAL
PRESENTATION.
431
30.1.2 METABOLIC DERANGEMENT
.
431
30.1.3
GENETICS.
431
30.1.4 DIAGNOSTIC
TESTS.
432
30.1.5
TREATMENT.
432
30.2 DIM ETHYLGLYCINE DEHYDROGENASE D E FIC IE N C Y
.
432
30.2.1 CLINICAL
PRESENTATION.
432
30.2.2 METABOLIC DERANGEMENT
.
432
30.2.3
GENETICS.
432
30.2.4 DIAGNOSTIC
TESTS.
432
30.2.5
TREATMENT.
433
30.3 DISORDERS IN THE METABOLISM OF G LUTA TH IO N E
.
433
30.3.1 YGLUTAMYLCYSTEINE SYNTHETASE D E FICIEN
CY.
433
30.3.2 GLUTATHIONE SYNTHETASE D
EFICIENCY.
434
30.3.3 Y-GLUTAMYL TRANSPEPTIDASE
DEFICIENCY.
435
30.3.4 5-OXOPROLINASE D E FICIEN
CY.
436
30.3.5 DIPEPTIDASE D EFICIEN
CY.
436
30.3.6 SECONDARY
5-OXOPROLINURIA.
436
REFERENCES.
436
SECTION VII DISORDERS OF LIPID AND BILE ACID METABOLISM
31 IN B O RN E RRORS O F L IP O P RO TE IN M E TA B O LIS M P RE S E N
TIN G IN C H ILD H O O D . 441
UMA RAMASWAMI, STEVE E HUMPHRIES
31.1 DISORDERS O F LOW DENSITY LIPOPROTEIN METABOLISM
.
443
31.2 DISORDERS O F TRIGLYCERIDE (TG) M E TA B O LIS M
.
445
31.3 DISORDERS O F HIGH DENSITY LIPOPROTEIN M E TA B O LIS M
.
453
31.4 DISORDERS OF STEROL S TO RA G E
.
453
31.5
CONCLUSION.
453
REFERENCES.
453
32 D ISO RD E RS O F IS O P RE N O ID /C H O LE S TE RO L S Y N TH E S
IS
.
455
HANS R. WATERHAM, PETER T CLAYTON
32.1 MEVALONATE KINASE D
EFICIENCY.
457
32.2 SMITH-LEMLI-OPITZ SYNDROME (7-DEHYDROCHOLESTEROL REDUCTASE D E FIC
IE N C Y )
.
458
32.3 STEROL A8-A7 ISOMERASE D E FICIE N
CY.
459
32.3.1 X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA 2 OR
CONRADI-HUENERMANN SYNDROME IN FEMALES . . . 459
32.3.2 HEMIZYGOUS EBP DEFICIENCY IN M
ALES.
460
32.4 DEFICIENCY OF THE C4-DEMETHYLASE C OM
PLEX.
460
32.4.1 C4-METHYL STEROL OXIDASE DEFICIENCY (SMO DEFICIENCY)
.
460
32.4.2 STEROL 4A-CARBOXYLATE 3-DEHYDROGENASE DEFICIENCY
.
460
32.5 DESMOSTEROL REDUCTASE DEFICIENCY (DESM
OSTEROLOSIS).
461
32.6 STEROL A5-DESATURASE DEFICIENCY
(LATHOSTEROLOSIS). 461
32.7 STEROL A14-REDUCTASE DEFICIENCY (HYDROPS - ECTOPIC CALCIFICATION -
MOTH-EATEN (HEM)
SKELETAL DYSPLASIA OR GREENBERG SKELETAL DYSPLASIA)
.
462
REFERENCES.
463
33 D ISO RD E RS O F B ILE A CID S Y N TH E S IS
.
465
PETER T CLAYTON
33.1 3SS-HYDROXY-A5-C27-STEROID DEHYDROGENASE DEFICIENCY
.
467
33.2 A4-3-OXOSTEROID 5SS-REDUCTASE D
EFICIENCY.
468
33.3 CEREBROTENDINOUS XANTHOMATOSIS (STEROL 27-HYDROXYLASE D E FICIE N
CY). 469
33.4 A-METHYLACYL-COA RACEMASE D E FIC IE N C Y
.
471
33.5 OXYSTEROL 7A-HYDROXYLASE D E FIC IE N C Y
.
471
33.6 BILE ACID AMIDATION DEFECT 1: BILE ACID COA: AMINO ACID N-ACYL
TRANSFERASE D E FIC IE N C Y
.
472
33.7 BILE ACID AM IDATION DEFECT 2: BILE ACID COA LIGASE D E FICIEN
CY. 472
33.8 CHOLESTEROL 7A-HYDROXYLASE D
EFICIENCY.
473
33.9 DISORDERS OF PEROXISOME BIOGENESIS, PEROXISOMAL IM PORT AND
PEROXISOMAL SS -O XIDATION
.
473
REFERENCES.
473
34 D ISORDE RS O F IN TRA C E LLU LA R TRIG LY C E RID E AND P H O S P H
O LIP ID M E TA B O LIS M
.
477
FOUDIL LAMARI, JEAN-MARIE SAUDUBRAY, GRANT A. MITCHELL
34.1 INBORN ERRORS OF THE COMMON PATHWAY OF ACYLGLYCEROL AND
PHOSPHOLIPID SYNTHESIS. 479
34.1.1 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1 (GPD1) DEFICIENCY: AUTOSOMAL
RECESSIVE HEPATIC STEATOSIS
AND
HYPERTRIGLYCERIDEMIA.
479
34.1.2 GLYCEROL KINASE DEFICIENCY IS DESCRIBED IN CHAPTER
7.
479
34.1.3 1 -ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2 (AGPAT2)
DEFICIENCY: AUTOSOMAL RECESSIVE
GENERALIZED CONGENITAL
LIPODYSTROPHY.
479
34.1.4 PHOSPHATIDIC ACID PHOSPHATASE (PAP; LIPIN)
DEFICIENCIES.
479
34.1.5 DIACYLGLYCEROL KINASE EPSILON (DGKE) DEFICIENCY: ATYPICAL
HAEMOLYTIC UREMIC SYNDROME. 480
34.2 INBORN ERRORS OF CYTOPLASMIC TRIGLYCERIDE M E TA B O LIS M
.
480
34.2.1 DIACYLGLYCEROL O-ACYL TRANSFERASE 1 (DGAT1) DEFICIENCY:
CONGENITAL DIARRHEA. 480
34.2.2 PERILIPIN 1 DEFICIENCY: AUTOSOMAL DOMINANT PARTIAL
LIPODYSTROPHY.
481
34.2.3 NEUTRAL LIPID STORAGE DISEASES (NLSDS): ATGL AND CGI-58
DEFICIENCIES
.
481
34.2.4 HORMONE-SENSITIVE LIPASE (HSL) DEFICIENCY; INSULIN RESISTANCE, D
IABETES
.
481
34.3 INBORN ERRORS OF PHOSPHOLIPID B
IOSYNTHESIS.
483
34.4 CHOLINE KINASE SS (CHKSS) DEFICIENCY: CONGENITAL MUSCULAR DYSTROPHY,
MEGACONIAL T Y P E
.
483
34.4.1 CHOLINE-PHOSPHATECYTIDYLYLTRANSFERASE A (CCTA) DEFICIENCY:
SPONDYLOMETAPHYSEAL DYSPLASIA
WITH CONE-ROD DYSTROPHY OR CONGENITAL
LIPODYSTROPHY.
483
34.4.2 PHOSPHATIDYLSERINESYNTHASE 1 (PSS1) GAIN OF FUNCTION
(LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM) . 483
34.4.3 ACYLGLYCEROL KINASE (AGK) DEFICIENCY: MYOPATHY, HYPERTROPHIC
CARDIOMYOPATHY AND CONGENITAL
CATARACT (SENGERS
SYNDROME).
484
34.4.4 CARDIOLIPIN REMODELING ENZYME DEFICIENCY: X-LINKED CARDIOMYOPATHY
AND NEUTROPENIA (BARTH SYNDROME) 484
34.4.5 SERAC1 MUTATION: METHYLGLUTACONIC ACIDURIA, DEAFNESS, HEPATIC
INVOLVEMENT, ENCEPHALOPATHY,
AND LEIGH SYNDROME (MEGDHEL SYNDROM
E).
485
34.4.6 MITOCHONDRIAL CALCIUM INDEPENDENT PHOSPHOLIPASE A2Y (IPLA2Y):
AUTOSOMAL RECESSIVE MYOPATHY,
DYSTONIA AND CONVULSIONS (NOT
SHOWN).
485
34.5 INBORN ERRORS RELATED TO PHOSPHOLIPID R E M O D E LIN G
.
485
34.5.1 A/SS HYDROLASE DOMAIN-CONTAINING PROTEIN 12 (ABHD12) DEFICIENCY:
POLYNEUROPATHY, HEARING LOSS,
ATAXIA, RETINITIS PIGMENTOSA AND CATARACT (PHARC SYNDROME)
. 485
34.5.2 PHOSPHOLIPASE A2 DEFICIENCY (PLA2G6): AUTOSOMAL RECESSIVE
INFANTILE NEUROAXONAL DYSTROPHY,
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
.
486
34.5.3 DEFICIENCIES OF NEUROPATHY TARGET ESTERASE (NTE OR PNPLA-6) OR
MITOCHONDRIAL CALCIUM-INDEPENDENT
PHOSPHOLIPASE A2Y (PNPLA6): PERIPHERAL NEUROPATHY, SPASTIC PARAPLEGIA,
CHORIORETINAL DEGENERATION,
HYPOGONADOTROPHIC HYPOGONADISM, TRICHOMEGALY (SPG39, BOUCHER-NEUHAUSER,
GORDON-HOLMS,
OLIVER-MCFARLANE, LAURENCE-MOON SYNDROMES) OR MITOCHONDRIAL MYOPATHY
WITH DYSTONIA . 486
34.5.4 DDHD1 AND DDHD2 MUTATIONS: HEREDITARY SPASTIC PARAPLEGIAS 28 AND
45 . 487
34.5.5 CYP2U1 MUTATION: SPASTIC PARAPLEGIA WITH BASAL GANGLIA
CALCIFICATION (HEREDITARY SPASTIC
PARAPLEGIA 56,
SPG56).
487
34.5.6 INBORN ERRORS OF POLYPHOSPHOINOSITIDE M
ETABOLISM.
488
REFERENCES.
488
SECTION VIII DISORDERS OF NUCLEIC ACID AND HEME METABOLISM
35 D ISORDE RS O F P U RIN E A N D P Y RIM ID IN E M E TA B O LIS M
.
495
SANDRINE MARIE, GEORGES VAN DEN BERGHE AND MARIE-FRANGOISE VINCENT
35.1 INBORN ERRORS O F PURINE M E TA B O LIS M
.
497
35.1.1 PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE
SUPERACTIVITY.
497
35.1.2 PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE DEFICIENCY
.
497
35.1.3 ADENYLOSUCCINASE
DEFICIENCY.
498
35.1.4
AICA-RIBOSIDURIA.
498
35.1.5 MUSCLE ADENOSINE MONOPHOSPHATE DEAMINASE 1
DEFICIENCY.
498
35.1.6 ADENOSINE MONOPHOSPHATE DEAMINASE 2 AND 3
DEFICIENCIES.
499
35.1.7 ADENOSINE DEAMINASE 1
DEFICIENCY.
499
35.1.8 ADENOSINE DEAMINASE 2
DEFICIENCY.
501
35.1.9 ADENOSINE DEAMINASE
SUPERACTIVITY.
501
35.1.10 PURINE NUCLEOSIDE PHOSPHORYLASE
DEFICIENCY.
501
35.1.11 XANTHINE OXIDASE
DEFICIENCY.
501
35.1.12 HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
.
502
35.1.13 ADENINE PHOSPHORIBOSYLTRANSFERASE D EFICIEN
CY.
503
35.1.14 ADENYLATE KINASE 1
DEFICIENCY.
504
35.1.15 ADENYLATE KINASE 2
DEFICIENCY.
504
35.1.16 ADENOSINE KINASE
DEFICIENCY.
504
35.1.17 ADENYLATE CYCLASE 5 M
UTATIONS.
504
35.1.18 IMP DEHYDROGENASE MUTATIONS
.
504
35.1.19 DEOXYGUANOSINE KINASE
DEFICIENCY.
504
35.1.20 THIOPURINE METHYLTRANSFERASE D
EFICIENCY.
505
35.1.21 INOSINETRIPHOSPHATASE D E FICIEN
CY.
505
35.2 INBORN ERRORS O F PYRIMIDINE M E TA B O LIS M
.
505
35.2.1 CAD (CARBAMOYLPHOSPHATE SYNTHETASE II, ASPARTATE
TRANSCARBAMYLASE, DIHYDROOROTASE) DEFICIENCY. . . 505
35.2.2 UMP SYNTHASE DEFICIENCY (HEREDITARY OROTIC ACIDURIA
.
505
35.2.3 MILLER SYNDROME (DIHYDROOROTATE DEHYDROGENASE
DEFICIENCY.
507
35.2.4 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
.
507
35.2.5 DIHYDROPYRIMIDINASE
DEFICIENCY.
508
35.2.6 UREIDOPROPIONASE DEFICIENCY
.
508
35.2.7 PYRIMIDINE S'-NUCLEOTIDASE
DEFICIENCY.
508
35.2.8 CYTOSOLIC S'-NUCLEOTIDASE S
UPERACTIVITY.
508
35.2.9 THYMIDINE PHOSPHORYLASE DEFICIENCY
.
508
35.2.10 CYTIDINE DEAMINASE D E FICIEN
CY.
509
35.2.11 THYMIDINE KINASE 2
DEFICIENCY.
509
REFERENCES.
509
36 D ISO RD E RS O F HAEM B IO S Y N TH E S IS
.
515
CHARLES MARQUES LOURENGO, K ARL E. ANDERSON
36.1 X-LINKED SIDEROBLASTIC ANAEM
IA.
517
36.2 THE P ORP
HYRIAS.
517
36.2.1 CLASSIFICATION AND D
IAGNOSIS.
517
36.3 5-AMINOLEVULINIC ACID DEHYDRATASE P O RP H Y RIA
.
519
36.4 ACUTE INTERM ITTENT PORPHYRIA (A IR
).
519
36.5 CONGENITAL ERYTHROPOIETIC PORPHYRIA (CEP) (GUNTHER D ISEASE)
.
521
36.6 PORPHYRIA CUTANEA TARDA (PCT)
.
522
36.7 HEPATOERYTHROPOIETIC P O RP H Y RIA
.
523
36.8 HEREDITARY COPROPORPHYRIA AND VARIEGATE P ORP H YRIA
.
523
36.9 ERYTHROPOIETIC PROTOPORPHYRIA AND X-LINKED PROTOPORPHYRIA
.
524
REFERENCES.
525
SECTION IX DISORDERS OF METAL TRANSPORT AND METABOLISM
37 D ISO RD E RS IN TH E T RA N S P O RT O F COPPER, IRO N , M A G N E S
IU M , M ANGANESE, S ELEN IUM
A N D Z IN C
.
531
PETER M. VAN HASSELT, PETER CLAYTON
,
RODERICK H.J. HOUWEN
37.1 C O P P E
R.
532
37.1.1 WILSON
DISEASE.
533
37.1.2 MENKES
DISEASE.
535
37.1.3 OTHER COPPER STORAGE
DISORDERS.
536
37.1.4 OTHER DISTURBANCES OF COPPER METABOLISM WITH A LOW SERUM C O P P
E R
.
536
37.2 IRON
.
537
37.2.1 SYSTEMIC IRON OVERLOAD SYNDROMES
(HAEMOCHROMATOSIS).
538
37.2.2 IRON DEFICIENCY AND DISTRIBUTION D
ISORDERS.
539
37.2.3 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
(NBIA).
540
37.3 M A G N E S IU M
.
541
37.3.1 PRIMARY HYPOMAGNESAEMIA WITH SECONDARY HYPOCALCAEMIA
.
541
37.3.2 HYPOMAGNESAEMIA WITH HYPERCALCIURIA AND
NEPHROCALCINOSIS.
542
37.3.3 ISOLATED DOMINANT
HYPOMAGNESEMIA.
542
37.3.4 ISOLATED AUTOSOMAL RECESSIVE HYPOMAGNESAEMIA
.
.
543
37.4 M AN G A N E SE
.
543
37.4.1 INHERITED MANGANISM DUE TO MUTATIONS IN
SLC30A10
.
543
37.4.2 MANGANESE TRANSPORTER DEFECT
.
544
37.5 S ELENIUM
.
544
37.6 Z IN C
.
544
37.6.1 ACRODERMATITIS E
NTEROPATHICA.
545
37.6.2 ZINC DEFICIENCY IN BREASTFED
BABIES.
546
37.6.3 HYPERZINCAEMIA WITH
HYPERCALPROTECTINAEMIA.
546
37.6.4 AUTOSOMAL DOMINANT HYPERZINCAEMIA WITHOUT S YM PTOM
S. 546
REFERENCES.
546
SECTION X ORGANELLE-RELATED DISORDERS: LYSOSOMES, PEROXISOMES,
AND GOLGI AND PRE-GOLGI SYSTEMS
38 DISORDERS OF SPHINGOLIPID SYNTHESIS, SPHINGOLIPIDOSES, NIEMANN-PICK
DISEASE TYPE C
AND NEURONAL CEROID LIPOFUSCINOSES
.
551
MARIE T. VARIIER, CATHERINE CAILLAUD, THIERRY LEVADE
38.1 DISORDERS OF SPHINGOLIPID S
YNTHESIS.
553
38.1.1 SERINE PALMITOYLTRANSFERASE (SUBUNIT 1 OR 2) DEFICIENCY AND
HSAN1. 553
38.1.2 DEFECTS IN CERAMIDE SYNTHASES 1 AND 2 AND MYOCLONIC E
PILEPSY. 554
38.1.3 FATTY ACID 2-HYDROXYLASE DEFICIENCY (SPG35/FAHN)
.
555
38.1.4 GM3 SYNTHASE DEFICIENCY AND AMISH EPILEPSY S YNDROM
E.
555
38.1.5 GM2/GD2 SYNTHASE DEFICIENCY
(SPG26).
555
38.1.6 NONLYSOSOMAL SS-GLUCOSIDASE GBA2 DEFICIENCY: SPG46 AND A TAXIA
.
555
38.1.7 CERAMIDE SYNTHASE 3 AND ULTRA-LONG CHAIN FATTY ACID
CU-HYDROXYLASE (CYP4F22) DEFICIENCIES:
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS
(ARCI).
555
38.1.8 MUTATIONS IN CERAMIDE KINASE-LIKE (CERKL) GENE AND RETINAL D Y S
TRO P H Y
.
556
38.1.9 ALKALINE CERAMIDASE 3 (ACER3) DEFICIENCY: INFANTILE
LEUKODYSTROPHY. 556
38.2 S PH IN G O LIP ID O SE
S.
556
38.2.1 GAUCHER
DISEASE.
556
38.2.2 ACID SPHINGOMYELINASE-DEFICIENT NIEMANN-PICK DISEASE (TYPE A,TYPE
B AND INTERMEDIATE FORMS) . . 559
38.2.3 GM1 GANGLIOSIDOSIS
.
560
38.2.4 GM2
GANGLIOSIDOSES.
561
38.2.5 KRABBE D
ISEASE.
562
38.2.6 METACHROMATIC
LEUKODYSTROPHY.
563
38.2.7 FABRY DISEASE
.
565
38.2.8 FAERBER DISEASE / ACID CERAMIDASE
DEFICIENCY.
566
38.2.9 PROSAPOSIN D
EFICIENCY.
566
38.3 NIEMANN-PICK DISEASE TYPE C
.
. 566
38.3.1 CLINICAL
PRESENTATION.
566
38.3.2 METABOLIC DERANGEMENT
.
567
38.3.3
GENETICS.
568
38.3.4 DIAGNOSTIC
TESTS.
568
38.3.5 TREATMENT AND
PROGNOSIS.
568
38.4 NEURONAL CEROID
LIPOFUSCINOSES.
568
38.4.1 CLINICAL
PRESENTATION.
568
38.4.2 METABOLIC DERANGEMENT
.
570
38.4.3
GENETICS.
571
38.4.4 DIAGNOSTIC
TESTS.
571
38.4.5 TREATMENT AND
PROGNOSIS.
571
REFERENCES.
571
39 M UCO P O LYSA CCH A RID O SE S, O LIG OSA CCHARIDO SES AN D S IALIC
A CID D IS O RD E RS
.
577
SIMON JONES
,
FRITS W IJBURG
39.1
MUCOPOLYSACCHARIDOSES.
579
39.1.1 CLINICAL
PRESENTATION.
579
39.1.2 METABOLIC DERANGEMENT
.
583
39.1.3
GENETICS.
583
39.1.4 DIAGNOSTIC
TESTS.
583
39.1.5 TREATMENT AND
PROGNOSIS.
583
39.2 OLIGOSACCHARIDOSES AND M
UCOLIPIDOSES.
585
39.2.1 CLINICAL
PRESENTATION.
585
39.2.2 METABOLIC
DERANGEMENTS.
587
39.2.3
GENETICS.
587
39.2.4 DIAGNOSTIC
TESTS.
588
39.2.5 TREATMENT AND
PROGNOSIS.
588
REFERENCES.
588
40 IN B O RN E RRORS O F N O N -M ITO C H O N D RIA L F A TTY A CID M E
TA B O LIS M IN C LU D IN G P ERO XISO M AL
D IS O RD E RS
.
591
RONALD J.A. WANDERS
,
PATRICK AUBOURG, BWEE TIEN POLL-THE
40.1 DISORDERS OF ETHERPHOSPHOLIPID B
IOSYNTHESIS.
594
40.1.1 PEROXIN 7 (PEX7) DEFICIENCY (RCDP TYPE 1)
.
594
40.1.2 GLYCERONE 3-PHOSPHATE ACYLTRANSFERASE (GNPAT) DEFICIENCY (RCDP
TYPE 2 )
.
594
40.1.3 ALKYLGLYCERONE 3-PHOSPHATE SYNTHASE (AGPS) DEFICIENCY (RCDPTYPE 3
) . 594
40.1.4 PEX5L-DEFICIENCY (RCDP TYPE 4 )
.
594
40.1.5 FATTY ACYL-COA REDUCTASE 1 (PARI) D
EFICIENCY.
595
40.2 DISORDERS O F PEROXISOMAL SS -O
XIDATION.
595
40.2.1 X-LINKED ADRENOLEUKODYSTROPHY
.
595
40.2.2 D-BIFUNCTIONAL PROTEIN (DBP)
DEFICIENCY.
596
40.2.3 ACYL-COA OXIDASE (ACOX)
DEFICIENCY.
597
40.2.4 METHYL ACYL-COA RACEMASE (AMACR)
DEFICIENCY.
597
40.2.5 STEROL CARRIER PROTEIN-2 (SCPX) D
EFICIENCY.
598
40.2.6 PMP70
DEFICIENCY.
598
40.2.7 CONTIGUOUS
ABCD1, DXS73574-DELETION SYNDROME (CADDS)
. 598
40.2.8 ZELLWEGER SPECTRUM DISORDERS
(ZSD).
598
40.3 DISORDERS O F PEROXISOMAL FATTY ACID ALPHA-OXIDATION
.
599
40.3.1 ADULT REFS URN DISEASE (A R D
).
599
40.4 THE FATTY ACID CHAIN ELONGATION
DISORDERS.
600
40.4.1 ELOVL4 D E FICIEN
CY.
600
40.4.2 ELOVL5 D
EFICIENCY.
601
40.4.3 TRANS-2,3-ENOYL-COA REDUCTASE (TER) DEFICIENCY
.
601
40.4.4 3-HYDROXYACYL-COA DEHYDRATASEL (HACD1) DEFICIENCY
.
601
40.5 DISORDERS OF EICOSANOID M ETAB OLISM
.
601
40.5.1 PRIMARY HYPERTROPHIC OSTEOARTHROPATHY TYPE 1 (PHOAR1): 15-HYDROXY
PROSTAGLANDIN DEHYDROGENASE
(PGDH) DEFICIENCY AND TYPE 2 (PHOAR2): PROSTAGLANDIN TRANSPORTER (PGT) D
EFICIENCY
.
601
40.5.2 LTC4-SYNTHASE
DEFICIENCY.
603
40.6 REMAINING DISORDERS OF FATTY ACID HOM
EOSTASIS.
603
40.6.1 SJOEGREN LARSSON SYNDROME
(SLS).
603
40.6.2 BILE ACID-COA: AMINO ACID N-ACYLTRANSFERASE (BAAT) D
EFICIENCY.
604
40.7 OTHER PEROXISOMAL DISORDERS NOT INVOLVING FATTY ACID M ETABOLISM
.
604
40.7.1 OXALURIAS AND OXALOSIS: GLYOXYLATE DETOXIFICATION DISORDERS
.
604
40.7.2 PIPECOLIC A CIDEM
IA.
604
40.7.3
ACATALASEMIA.
604
REFERENCES.
605
41 C O N G E N ITA L D ISORDE RS O F G LY C O S Y LA TIO N , D O LIC H O
L AN D G LY C O S Y LP H O S P H A TID Y LIN O S ITO L
M E TA B O LIS M
.
607
JAAK JAEKEN, EVA MORAVA
41.1 INTROD
UCTION.
609
41.2 CONGENITAL DISORDERS O F PROTEIN
N-GLYCOSYLATION.
611
41.2.1 PHOSPHOMANNOMUTASE 2 DEFICIENCY
(PMM2-CDG).
611
41.2.2 MANNOSEPHOSPHATE ISOMERASE DEFICIENCY (MPI-CDG)
.
612
41.2.3 GLUCOSYLTRANSFERASE 1 DEFICIENCY (ALG6-CDG)
.
612
41.2.4 MANNOSYLTRANSFERASE 1 DEFICIENCY
(ALG1-CDG).
613
41.2.5 UDP-GLCNAC:DOL-P-GLCNAC-P TRANSFERASE DEFICIENCY (DPAGT1-CDG)
. 613
41.2.6 GOLGI A1-2 MANNOSIDASE 1 DEFICIENCY
(MAN1B1-CDG).
614
41.3 CONGENITAL DISORDERS OF PROTEIN O-GLYCOSYLATION
.
614
41.3.1 PROGEROID VARIANT OF EHLERS-DANLOS SYNDROME
(B4GALT7-CDG).
614
41.3.2 GALNT3 DEFICIENCY
(GALNT3-CDG).
614
41.3.3 HEREDITARY MULTIPLE EXOSTOSES
(EXT1/EXT2-CDG).
614
41.3.4 CEREBRO-OCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROMES,TYPES AI,
BL, C1/A2, B2, C2
(POMT1
/POMT2-CDG).
616
41.3.5 MUSCLE-EYE-BRAIN DISEASE, TYPES A3, B3, C3 (POMGNT1 -CDG)
.
616
41.3.6 O-FUCOSE-SPECIFIC SS-1,3-GLUCOSYLTRANSFERASE DEFICIENCY
(B3GALTL-CDG)
.
616
41.4 DEFECTS IN LIPID GLYCOSYLATION AND IN GLYCOSYLPHOSPHATIDYLINOSITOL
(GPI) ANCHOR BIOSYNTHESIS . 616
41.4.1 GM3 SYNTHASE DEFICIENCY
(ST3GAL5-CDG).
616
41.4.2 GM2 SYNTHASE DEFICIENCY (B4GALNT1-CDG)
.
616
41.4.3 PIGA DEFICIENCY
(PIGA-CDG).
616
41.5 DEFECTS IN M ULTIPLE GLYCOSYLATION PATHWAYS AND IN OTHER PATHWAYS
INCLUDING
DOLICHOLPHOSPHATE BIOSYNTHESIS D
EFECTS.
616
41.5.1 HEREDITARY INCLUSION BODY MYOPATHY (GNE-CDG)
.
616
41.5.2 CONGENITAL MYASTHENIC SYNDROME-12 (GFPT1 -CDG)
.
617
41.5.3 STEROID 5-A-REDUCTASE DEFICIENCY
(SRD5A3-CDG).
617
41.5.4 COG6 DEFICIENCY
(COG6-CDG).
620
41.5.5 AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2 (ATP6V0A2-CDG)
.
620
41.5.6 PHOSPHOGLUCOMUTASE 1 DEFICIENCY (PGM1-CDG)
.
620
41.5.7 GOLGI HOMEOSTASIS DISORDERS: TMEM199 AND CCDC115 DEFICIENCIES
.
620
41.5.8 MANGANESE AND ZINC TRANSPORTER DEFECT: SLC39A8 D
EFICIENCY.
620
41.6 CONGENITAL DISORDERS OF
DEGLYCOSYLATION.
621
41.6.1 N-GLYCANASE 1
DEFICIENCY.
621
41.6.2 LYSOSOMAL STORAGE
DISORDERS.
621
REFERENCES.
621
42 C YSTINOSIS
.
623
PATRICK NIAUDET
42.1 INFANTILE C Y S TIN O S IS
.
624
42.1.1 CLINICAL
PRESENTATION.
624
42.1.2 METABOLIC DERANGEMENT
.
626
42.1.3
GENETICS.
626
42.1.4 DIAGNOSTIC
TESTS.
626
42.1.5
TREATMENT.
626
42.2 LATE-ONSET CYSTINOSIS
.
627
42.3 OCULAR
CYSTINOSIS.
628
REFERENCES.
628
SECTION XI APPENDIX
43 M E D IC A TIO N S USED IN TH E TRE A TM E N T O F IN B O RN E R R O
R S . 633
JOHN WALTER
SUBJECT INDEX
643 |
| any_adam_object | 1 |
| author2 | Saudubray, Jean-Marie 1937- Baumgartner, Matthias R. 1966- Walter, John |
| author2_role | edt edt edt |
| author2_variant | j m s jms m r b mr mrb j w jw |
| author_GND | (DE-588)112194146X (DE-588)107577408X (DE-588)1121941885 |
| author_facet | Saudubray, Jean-Marie 1937- Baumgartner, Matthias R. 1966- Walter, John |
| building | Verbundindex |
| bvnumber | BV044447228 |
| ctrlnum | (OCoLC)943762094 (DE-599)DNB1084224828 |
| dewey-full | 616.39042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.39042 |
| dewey-search | 616.39042 |
| dewey-sort | 3616.39042 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 6th edition |
| format | Book |
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| id | DE-604.BV044447228 |
| illustrated | Illustrated |
| indexdate | 2024-12-09T13:02:32Z |
| institution | BVB |
| institution_GND | (DE-588)1065168780 |
| isbn | 9783662497692 3662497697 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-029848243 |
| oclc_num | 943762094 |
| open_access_boolean | |
| owner | DE-19 DE-BY-UBM DE-355 DE-BY-UBR |
| owner_facet | DE-19 DE-BY-UBM DE-355 DE-BY-UBR |
| physical | XXXI, 658 Seiten Illustrationen 27 cm |
| publishDate | 2016 |
| publishDateSearch | 2016 |
| publishDateSort | 2016 |
| publisher | Springer |
| record_format | marc |
| spelling | Inborn metabolic diseases diagnosis and treatment Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds.) 6th edition Berlin, Heidelberg Springer 2016 XXXI, 658 Seiten Illustrationen 27 cm txt rdacontent n rdamedia nc rdacarrier Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf MJG MJN Disorders of metabolism Inborn errors of metabolism Inherited metabolic diseases Metabolic diseases Neonatal Screening Newborn Screening Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Saudubray, Jean-Marie 1937- (DE-588)112194146X edt Baumgartner, Matthias R. 1966- (DE-588)107577408X edt Walter, John (DE-588)1121941885 edt Springer-Verlag GmbH (DE-588)1065168780 pbl Erscheint auch als Online-Ausgabe Saudubray, Jean-Marie; Baumgartner, Matthias R.; Walter, John Inborn metabolic diseases Berlin, Heidelberg : Springer, 2016 978-3-662-49771-5 Vorangegangen ist 9783642157196 X:MVB text/html http://deposit.dnb.de/cgi-bin/dokserv?id=76a966d96206468cb4610c7b5c1d03e1&prov=M&dok_var=1&dok_ext=htm Inhaltstext B:DE-101 application/pdf http://d-nb.info/1084224828/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029848243&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Inborn metabolic diseases diagnosis and treatment Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4057700-4 |
| title | Inborn metabolic diseases diagnosis and treatment |
| title_auth | Inborn metabolic diseases diagnosis and treatment |
| title_exact_search | Inborn metabolic diseases diagnosis and treatment |
| title_full | Inborn metabolic diseases diagnosis and treatment Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds.) |
| title_fullStr | Inborn metabolic diseases diagnosis and treatment Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds.) |
| title_full_unstemmed | Inborn metabolic diseases diagnosis and treatment Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds.) |
| title_short | Inborn metabolic diseases |
| title_sort | inborn metabolic diseases diagnosis and treatment |
| title_sub | diagnosis and treatment |
| topic | Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Angeborene Krankheit Stoffwechselkrankheit |
| url | http://deposit.dnb.de/cgi-bin/dokserv?id=76a966d96206468cb4610c7b5c1d03e1&prov=M&dok_var=1&dok_ext=htm http://d-nb.info/1084224828/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029848243&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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