Vademecum metabolicum: diagnosis and treatment of inherited metabolic disorders
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| Sprache: | English |
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Stuttgart
Thieme
[2020]
Erlangen Nutricia |
| Ausgabe: | 5th edition |
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| Beschreibung: | XII, 252 Seiten |
| ISBN: | 9783132435513 3132435511 |
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| 100 | 1 | |a Zschocke, Johannes |d 1964- |e Verfasser |0 (DE-588)130300748 |4 aut | |
| 245 | 1 | 0 | |a Vademecum metabolicum |b diagnosis and treatment of inherited metabolic disorders |c Johannes Zschocke, Inssbruck, Austria, Georg F. Hoffmann, Heidelberg, Germany ; foreword by William L. Nyhan, San Diego, USA |
| 250 | |a 5th edition | ||
| 264 | 1 | |a Stuttgart |b Thieme |c [2020] | |
| 264 | 1 | |a Erlangen |b Nutricia | |
| 264 | 4 | |c © 2020 | |
| 300 | |a XII, 252 Seiten | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
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| 653 | |a Pädiatrie | ||
| 653 | |a Stoffwechselkrankheiten | ||
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| 653 | |a 128 | ||
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| 689 | 0 | 1 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |D s |
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| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e Verfasser |0 (DE-588)115652868 |4 aut | |
| 710 | 2 | |a Georg Thieme Verlag KG |0 (DE-588)1064287301 |4 pbl | |
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| 856 | 4 | 2 | |m Digitalisierung UB Augsburg - ADAM Catalogue Enrichment |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032525880&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
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Datensatz im Suchindex
| _version_ | 1804182162652528640 |
|---|---|
| adam_text | V
CONTENTS
FOREWORD
............................................................................................
IX
PREFACE
..............................................................................................
X
ABBREVIATIONS
..................................................................................
XI
I
DIAGNOSIS
AND
MANAGEMENT
OF
INHERITED
METABOLIC
DISORDERS
1
1
BASIC
LABORATORY
TESTS
..................................................................
1
2
IMPORTANT
CLINICAL
CONSTELLATIONS
...............................................
2
2.1
GENERAL
CONSIDERATIONS
..................................................................
2
2.2
THE
METABOLIC
EMERGENCY
.............................................................
3
2.3
HYPOGLYCEMIA
................................................................................
6
2.4
HYPERAMMONEMIA
.........................................................................
8
2.5
METABOLIC
ACIDOSIS
AND
KETOSIS
......................................................
12
2.6
ELEVATED
LACTATE
CONCENTRATIONS
....................................................
14
2.7
INTELLECTUAL
DISABILITY
.......................................................................
16
2.8
EPILEPTIC
ENCEPHALOPATHY
................................................................
17
2.9
ATAXIAS
............................................................................................
20
2.10
THE
FLOPPY
INFANT
...........................................................................
21
2.11
EXERCISE
INTOLERANCE
.......................................................................
21
2.12
CARDIOMYOPATHY
..............................................................................
22
2.13
DYSMORPHIC
FEATURES
.......................................................................
23
2.14
LIVER
DISEASE/LIVER
FAILURE
................................................................
25
2.15
SUDDEN
UNEXPECTED
DEATH
(IN
INFANCY)
..........................................
31
2.16
POST-MORTEM
INVESTIGATIONS
...........................................................
32
2.17
FETAL
HYDROPS
..................................................................................
33
2.18
UNUSUAL
CLINICAL
OBSERVATIONS
........................................................
34
2.19
UNEXPECTED
LABORATORY
FINDINGS
....................................................
36
2.20
SPECIAL
METABOLIC
INVESTIGATIONS
ARE
NOT
REQUIRED
IN
......................
37
3
SPECIAL
METABOLIC
INVESTIGATIONS
...............................................
38
3.1
SIMPLE
METABOLIC
URINE
TESTS
........................................................
39
3.2
AMINO
ACIDS
(AA)
...........................................................................
39
3.3
ORGANIC
ACIDS
(OA)
.........................................................................
41
3.4
CARNITINE
ANALYSES
...........................................................................
42
3.5
OTHER
SPECIAL
METABOLIC
INVESTIGATIONS
..........................................
43
3.6
BIOPSIES
AND
ENZYME
STUDIES
........................................................
48
3.7
MOLECULAR
GENETIC
INVESTIGATIONS
....................................................
48
VI
CONTENTS
4
FUNCTION
TESTS
................................................................................
52
4.1
METABOLIC
PROFILING
.........................................................................
52
4.2
PROLONGED
FASTING
TEST
.......................................................................
53
4.3
GLUCAGON
TEST
...................................................................................
56
4.4
TETRAHYDROBIOPTERIN
RESPONSIVENESS
(BH
4
)
TEST
............................
56
4.5
PHENYLALANINE
LOADING
TEST
.............................................................
58
5
NEWBORN
SCREENING
.......................................................................
59
5.1
NEWBORN
SCREENING
FOR
INHERITED
METABOLIC
DISEASES
...................
59
5.2
NEWBORN
SCREENING
FOR
NON-METABOLIC
DISORDERS
..........................
65
II
METABOLIC
PATHWAYS
AND
THEIR
DISORDERS
....................................
67
6
DISORDERS
OF
AMINO
ACID
METABOLISM
..........................................
67
6.1
PRINCIPLES
OF
TREATMENT
....................................................................
68
6.2
UREA
CYCLE
DISORDERS
AND
INHERITED
HYPERAMMONEMIAS
.................
70
6.3
ORGANIC
ACIDURIAS
..............................................................................
75
6.4
DISORDERS
OF
BRANCHED-CHAIN
AMINO
ACID
METABOLISM
...................
82
6.5
DISORDERS
OF
PHENYLALANINE
AND
TYROSINE
METABOLISM
...................
84
6.6
DISORDERS
OF
THE
METABOLISM
OF
SULFUR
AMINO
ACIDS
AND
HYDROGEN
SULFIDE
.......................................................................
87
6.7
DISORDERS
OF
SERINE
AND
GLYCINE
METABOLISM
.................................
91
6.8
DISORDERS
OF
ORNITHINE,
PROLINE,
HYDROXYPROLINE,
GLYOXYLATE
AND
OXALATE
METABOLISM
...............................................
93
6.9
DISORDERS
OF
LYSINE,
HYDROXYLYSINE,
TRYPTOPHAN
AND
HISTIDINE
METABOLISM
................................................................
95
6.10
DISORDERS
OF
GLUTAMATE/GLUTAMINE
AND
ASPARTATE/ASPARAGINE
METABOLISM
.....................................................................................
97
6.11
DISORDERS
OF
AMINO
ACID
TRANSPORT
..................................................
98
6.12
OTHER
DISORDERS
OF
AMINO
ACID
METABOLISM
.................................
100
7
DISORDERS
OF
PEPTIDE
AND
AMINE
METABOLISM
..........................
101
7.1
DISORDERS
OF
GLUTATHIONE
METABOLISM
..........................................
101
7.2
OTHER
DISORDERS
OF
PEPTIDE
METABOLISM
........................................
102
7.3
DISORDERS
OF
METHYLAMINE
AND
POLYAMINE
METABOLISM
..............
103
8
DISORDERS
OF
CARBOHYDRATE
METABOLISM
...................................
105
8.1
DISORDERS
OF
GALACTOSE
AND
FRUCTOSE
METABOLISM
..........................
107
8.2
DISORDERS
OF
GLUCONEOGENESIS
......................................................
109
8.3
DISORDERS
OF
GLYCOGEN
METABOLISM
AND
GLYCOLYSIS
........................
ILL
8.4
DISORDERS
OF
PENTOSE
METABOLISM
..................................................
114
8.5
DISORDERS
OF
HEXOSE
TRANSMEMBRANE
TRANSPORT
AND
ABSORPTION
.
115
CONTENTS
VII
9
DISORDERS
OF
FATTY
ACID,
CARNITINE
AND
KETONE
BODY
METABOLISM
..................................................................................
116
9.1
DISORDERS
OF
MITOCHONDRIAL
FATTY
ACID
OXIDATION
AND
CARNITINE
METABOLISM
.............................................................
117
9.2
DISORDERS
OFKETONE
BODY
METABOLISM
..........................................
121
10
DISORDERS
OF
METABOLITE
PROOFREADING
......................................
123
11
DISORDERS
OF
ENERGY
METABOLISM
...............................................
124
11.1
DISORDERS
OF
PYRUVATE
METABOLISM
AND
THE
KREBS
CYCLE
.................
126
11.2
DISORDERS
OF
CREATINE
BIOSYNTHESIS
.................................................
129
11.3
MITOCHONDRIAL
RESPIRATORY
CHAIN
DISORDERS
...................................
130
11.4
SYNDROMIC
MITOCHONDRIAL
DISORDERS
.............................................
139
11.5
ORGAN-BASED
APPROACH
TO
MITOCHONDRIAL
DISORDERS
.....................
145
11.6
MOLECULAR
AND
FUNCTIONAL
CLASSIFICATION
OF
MITOCHONDRIAL
DISORDERS
147
12
DISORDERS
OF
LIPID
METABOLISM
....................................................
150
12.1
DISORDERS
OF
FATTY
ACYL
SYNTHESIS,
ELONGATION,
AND
RECYCLING
.........
152
12.2
DISORDERS
OF
PEROXISOMAL
FATTY
ACID
OXIDATION
AND
PEROXISOME
BIOGENESIS
...........................................................
153
12.3
DISORDERS
OF
EICOSANOID
METABOLISM
.............................................
156
12.4
DISORDERS
OF
GLYCEROLIPID
METABOLISM
..........................................
156
12.5
DISORDERS
OF
GLYCEROPHOSPHOLIPID
METABOLISM
............................
157
12.6
DISORDERS
OF
SPHINGOLIPID
SYNTHESIS AND
RECYCLING
........................
158
12.7
DISORDERS
OF
STEROL
SYNTHESIS
...........................................................
160
12.8
DISORDERS
OFBILE
ACID
METABOLISM
.................................................
163
13
DISORDERS
OF
LIPOPROTEIN
METABOLISM
........................................
165
13.1
HYPERCHOLESTEROLEMIAS
..................................................................
166
13.2
HYPERTRIGLYCERIDEMIAS
....................................................................
168
13.3
MIXED
HYPERLIPIDEMIAS
..................
169
13.4
DISORDERS
OF
HIGH-DENSITY
LIPOPROTEIN
(HDL)
METABOLISM
............
170
13.5
DISORDERS
WITH
DECREASED
LDL
CHOLESTEROL
AND
TRIGLYCERIDES
....
171
14
DISORDERS
OF
PURINE,
PYRIMIDINE
AND
NUCLEOTIDE
METABOLISM
.
172
14.1
DISORDERS
OF
PURINE
METABOLISM
....................................................
175
14.2
DISORDERS
OF
PYRIMIDINE
METABOLISM
.............................................
178
15
DISORDERS
OF
TETRAPYRROLE
METABOLISM,
PORPHYRIAS
...................
180
15.1
PORPHYRIAS
.......................................................................................
181
16
CONGENITAL
DISORDERS
OF
GLYCOSYLATION
(CDG)
............................
183
16.1
DISORDERS
OF
N-LINKED
PROTEIN
GLYCOSYLATION
.................................
183
16.2
DISORDERS
OF
O-LINKED
PROTEIN
GLYCOSYLATION
.................................
186
VIII
CONTENTS
16.3
DISORDERS
OF
LIPID
GLYCOSYLATION/GPI
ANCHOR
BIOSYNTHESIS
............
187
16.4
DISORDERS
OF
MULTIPLE
GLYCOSYLATION
PATHWAYS
............................
188
17
DISORDERS
OF
COMPLEX
MOLECULE
DEGRADATION
-
LYSOSOMAL
DISORDERS
....................................................................
190
17.1
DISORDERS
OF
SPHINGOLIPID
DEGRADATION/SPHINGOLIPIDOSES
............
196
17.2
DISORDERS
OF
GLYCOSAMINOGLYCAN
DEGRADATION/
MUCOPOLYSACCHARIDOSES
(MPS)
......................................................
200
17.3
DISORDERS
OF
GLYCOPROTEIN
DEGRADATION/OLIGOSACCHARIDOSES
..........
203
17.4
NEURONAL
CEROID
LIPOFUSCINOSES,
NCL
.............................................
204
17.5
OTHER
DISORDERS
OF
COMPLEX
MOLECULE
DEGRADATION
.....................
206
18
DISORDERS
OF
VITAMIN
AND
COFACTOR
METABOLISM
.....................
208
18.1
DISORDERS
OF
PTERIN
(TETRAHYDROBIOPTERIN)
METABOLISM
..............
208
18.2
DISORDERS
OF
COBALAMIN
ABSORPTION,
TRANSPORT
AND
METABOLISM
..
210
18.3
DISORDERS
OF
FOLATE
METABOLISM
AND
TRANSPORT
............................
212
18.4
DISORDERS
OF
BIOTIN
METABOLISM
....................................................
214
18.5
DISORDERS
OF
VITAMIN
B
6
(PYRIDOXAL
PHOSPHATE)
METABOLISM
....
215
18.6
OTHER
DISORDERS
OF
VITAMIN
METABOLISM
........................................
218
19
DISORDERS
OF
THE
METABOLISM
OF
TRACE
ELEMENTS
AND
METALS
220
19.1
DISORDERS
OF
COPPER
METABOLISM
..................................................
220
19.2
DISORDERS
OF
IRON
METABOLISM
......................................................
222
19.3
DISORDERS
IN
THE
METABOLISM
OF
OTHER
TRACE
ELEMENTS
AND
METALS
225
20
NEUROTRANSMITTER
DISORDERS
......................................................
226
20.1
MONOAMINE
NEUROTRANSMITTER
DISORDERS
......................................
226
20.2
DISORDERS
OF
GABA
METABOLISM
....................................................
228
20.3
OTHER
NEUROMETABOLIC
DISORDERS
..................................................
229
21
ENDOCRINE
METABOLIC
DISEASES
....................................................
230
21.1
DISORDERS
OF
INSULIN
REGULATION,
CONGENITAL
HYPERINSULINISM,
CHI
230
APPENDIX
..........................................................................................
233
HELPFUL
INTERNET
RESOURCES
...........................................................
233
FREE
FATTY
ACIDS
AND
3-HYDROXYBUTYRATE
DURING
FASTING
..............
235
GENES
............................................................................................
236
INDEX
..............................................................................................
241
EMERGENCY
MEDICATION
................................................................
252
v Contents Foreword................................................................................................ IX Preface ................................................................................................ X Abbreviations...................................................................................... XI I Diagnosis and Management of Inherited Metabolic Disorders 1 1 Basic laboratory tests ................................................................... 1 2 Important clinical constellations 2 ................................................ 2.1 General considerations ................................................................... 2.2 The metabolic emergency ............................................................... 2.3 Hypoglycemia .................................................................................. 2.4 Hyperammonemia .......................................................................... 2.5 Metabolic acidosis and ketosis ....................................................... 2.6 Elevated lactate concentrations ..................................................... 2.7 Intellectual disability........................................................................ 2.8 Epileptic encephalopathy................................................................. 2.9 Ataxias ............................................................................................. 2.10 The floppy infant ............................................................................. 2.11 Exercise intolerance
........................................................................ 2.12 Cardiomyopathy............................................................................... 2.13 Dysmorphic features........................................................................ 2.14 Liver disease/liver failure................................................................. 2.15 Sudden unexpected death (in infancy)........................................... 2.16 Post-mortem investigations............................................................ 2.17 Fetal hydrops.................................................................................... 2.18 Unusual clinical observations......................................................... 2.19 Unexpected laboratory findings ..................................................... 2.20 Special metabolic investigations are not required in...................... 2 3 6 8 12 14 16 17 20 21 21 22 23 25 31 32 33 34 36 37 3 Special metabolic investigations ................................................ 38 3.1 3.2 3.3 3.4 3.5 3.6 3.7 Simple metabolic urine tests ......................................................... Amino acids (AA) ............................................................................ Organic acids (OA) .......................................................................... Carnitine analyses............................................................................ Other special metabolic investigations........................................... Biopsies and enzyme studies
......................................................... Molecular genetic investigations.................................................... 39 39 41 42 43 48 48
VI Contents 4 Function tests ................................................................................. 52 4.1 4.2 4.3 4.4 4.5 Metabolic profiling .......................................................................... Prolonged fasting test........................................................................ Glucagon test ................................................................................... Tetrahydrobiopterin responsiveness (BH4) test ............................ Phenylalanine loading test .............................................................. 52 53 56 56 58 5 Newborn screening ....................................................................... 59 5.1 5.2 Newborn screening for inherited metabolic diseases ................... Newborn screening for non-metabolic disorders .......................... 59 65 II Metabolic pathways and their discw ders..................................... 67 6 Disorders of amino acid metabolism .......................................... 67 6.1 6.2 6.3 6.4 6.5 6.6 Principles of treatment..................................................................... 68 Urea cycle disorders and inherited hyperammonemias................. 70 Organic acidurias............................................................................... 76 Disorders of branched-chain amino acid metabolism ................... 82 Disorders of phenylalanine and tyrosine metabolism ................... 84 Disorders of the metabolism of sulfur amino acids and hydrogen
sulfide........................................................................ 87 Disorders of serine and glycine metabolism ................................. 91 Disorders of ornithine, proline, hydroxyproline, glyoxylate and oxalate metabolism ................................................ 93 Disorders of lysine, hydroxylysine, tryptophan and histidine metabolism................................................................ 95 Disorders of glutamate/glutamine and aspartate/asparagine metabolism ...................................................................................... 97 Disorders of amino acid transport .................................................. 98 Other disorders of amino acid metabolism ................................. 100 6.7 6.8 6.9 6.10 6.11 6.12 7 Disorders of peptide and amine metabolism .......................... 101 7.1 7.2 7.3 Disorders of glutathione metabolism ........................................... Other disorders of peptide metabolism......................................... Disorders of methylamine and polyamine metabolism .............. 101 102 103 8 Disorders of carbohydrate metabolism .................................... 105 8.1 8.2 8.3 8.4 8.5 Disorders of galactose and fructose metabolism.......................... Disorders of gluconeogenesis ....................................................... Disorders of glycogen metabolism and glycolysis........................ Disorders of pentose metabolism.................................................. Disorders of hexose transmembrane transport and absorption . 107 109 Ill
114 115
Contents VII Disorders of fatty acid, carnitine and ketone body metabolism .................................................................................... 116 9.2 Disorders of mitochondrial fatty acid oxidation and carnitine metabolism .............................................................. Disorders of ketone body metabolism ........................................... 117 121 10 Disorders of metabolite proofreading ...................................... 123 11 Disorders of energy metabolism ................................................ 124 11.1 11.2 11.3 11.4 11.5 11.6 Disorders of pyruvate metabolism and the Krebs cycle................. 126 Disorders of creatine biosynthesis.................................................. 129 Mitochondrial respiratory chain disorders .................................... 130 Syndromic mitochondrial disorders .............................................. 139 Organ-based approach to mitochondrial disorders ...................... 145 Molecular and functional classification of mitochondrial disorders 147 12 Disorders of lipid metabolism ..................................................... 150 12.1 12.2 152 12.3 12.4 12.5 12.6 12.7 12.8 Disorders of fatty acyl synthesis, elongation, and recycling.......... Disorders of peroxisomal fatty acid oxidation and peroxisome biogenesis ............................................................ Disorders of eicosanoid metabolism .............................................. Disorders of glycerolipid metabolism ........................................... Disorders of
glycerophospholipid metabolism ............................. Disorders of sphingolipid synthesis and recycling ........................ Disorders of sterol synthesis............................................................ Disorders of bile acid metabolism................................................... 13 Disorders of lipoprotein metabolism ......................................... 165 13.1 13.2 13.3 13.4 13.5 Hypercholesterolemias ................................................................... Hypertriglyceridemias...................................................................... Mixed hyperlipidemias ................................................................... Disorders of high-density lipoprotein (HDL) metabolism ............ Disorders with decreased LDL cholesterol and triglycerides .... 166 168 169 170 171 9 9.1 153 156 156 157 158 160 163 14 Disorders of purine, pyrimidine and nucleotide metabolism . 172 14.1 14.2 Disorders of purine metabolism ..................................................... Disorders of pyrimidine metabolism .............................................. 175 178 15 Disorders of tetrapyrrole metabolism, porphyrias................... 180 15.1 Porphyrias......................................................................................... 181 16 Congenital disorders of glycosylation (CDC) ............................. 183 16.1 16.2 Disorders of N-linked protein glycosylation .................................. Disorders of О-linked protein glycosylation .................................. 183 186
Vili Contents 16.3 16.4 Disorders of lipid glycosylation/CPI anchor biosynthesis............ Disorders of multiple glycosylation pathways ............................. 187 188 17 Disorders of complex molecule degradation lysosomal disorders ..................................................................... 190 17.1 17.2 17.3 17.4 17.5 Disorders of sphingolipid degradation/sphingolipidoses............ Disorders of glycosaminoglycan degradation/ mucopolysaccharidoses (MPS)....................................................... Disorders of glycoprotein degradation/oligosaccharidoses......... Neuronal ceroid lipofuscinoses, NCL............................................. Other disorders of complex molecule degradation ..................... 200 203 204 206 18 Disorders of vitamin and cofactor metabolism ..................... 208 18.1 18.2 18.3 18.4 18.5 18.6 Disorders of pterin (tetrahydrobiopterin) metabolism .............. Disorders of cobalamin absorption, transport and metabolism .. Disorders of folate metabolism and transport ............................. Disorders of biotin metabolism .................................................... Disorders of vitamin B6 (pyridoxal phosphate) metabolism .... Other disorders of vitamin metabolism........................................ 208 210 212 214 215 218 19 Disorders of the metabolism of trace elements and metals 220 196 19.1 Disorders of copper metabolism .................................................. 19.2 Disorders of iron metabolism ....................................................... 19.3 Disorders in the
metabolism of other trace elements and metals 220 222 225 20 Neurotransmitter disorders ....................................................... 226 20.1 20.2 20.3 Monoamine neurotransmitter disorders...................................... Disorders of GABA metabolism ..................................................... Other neurometabolic disorders .................................................. 226 228 229 21 Endocrine metabolic diseases.................................................... 21.1 Disorders of insulin regulation, congenital hyperinsulinism, CHI Appendix 230 230 ...........................................................................................233 Helpful internet resources ............................................................ Free fatty acids and 3-hydroxybutyrate during fasting .............. 233 235 Genes ............................................................................................. 236 Index............................................................................................... 241 Emergency medication................................................................ 252
|
| adam_txt |
V
CONTENTS
FOREWORD
.
IX
PREFACE
.
X
ABBREVIATIONS
.
XI
I
DIAGNOSIS
AND
MANAGEMENT
OF
INHERITED
METABOLIC
DISORDERS
1
1
BASIC
LABORATORY
TESTS
.
1
2
IMPORTANT
CLINICAL
CONSTELLATIONS
.
2
2.1
GENERAL
CONSIDERATIONS
.
2
2.2
THE
METABOLIC
EMERGENCY
.
3
2.3
HYPOGLYCEMIA
.
6
2.4
HYPERAMMONEMIA
.
8
2.5
METABOLIC
ACIDOSIS
AND
KETOSIS
.
12
2.6
ELEVATED
LACTATE
CONCENTRATIONS
.
14
2.7
INTELLECTUAL
DISABILITY
.
16
2.8
EPILEPTIC
ENCEPHALOPATHY
.
17
2.9
ATAXIAS
.
20
2.10
THE
FLOPPY
INFANT
.
21
2.11
EXERCISE
INTOLERANCE
.
21
2.12
CARDIOMYOPATHY
.
22
2.13
DYSMORPHIC
FEATURES
.
23
2.14
LIVER
DISEASE/LIVER
FAILURE
.
25
2.15
SUDDEN
UNEXPECTED
DEATH
(IN
INFANCY)
.
31
2.16
POST-MORTEM
INVESTIGATIONS
.
32
2.17
FETAL
HYDROPS
.
33
2.18
UNUSUAL
CLINICAL
OBSERVATIONS
.
34
2.19
UNEXPECTED
LABORATORY
FINDINGS
.
36
2.20
SPECIAL
METABOLIC
INVESTIGATIONS
ARE
NOT
REQUIRED
IN
.
37
3
SPECIAL
METABOLIC
INVESTIGATIONS
.
38
3.1
SIMPLE
METABOLIC
URINE
TESTS
.
39
3.2
AMINO
ACIDS
(AA)
.
39
3.3
ORGANIC
ACIDS
(OA)
.
41
3.4
CARNITINE
ANALYSES
.
42
3.5
OTHER
SPECIAL
METABOLIC
INVESTIGATIONS
.
43
3.6
BIOPSIES
AND
ENZYME
STUDIES
.
48
3.7
MOLECULAR
GENETIC
INVESTIGATIONS
.
48
VI
CONTENTS
4
FUNCTION
TESTS
.
52
4.1
METABOLIC
PROFILING
.
52
4.2
PROLONGED
FASTING
TEST
.
53
4.3
GLUCAGON
TEST
.
56
4.4
TETRAHYDROBIOPTERIN
RESPONSIVENESS
(BH
4
)
TEST
.
56
4.5
PHENYLALANINE
LOADING
TEST
.
58
5
NEWBORN
SCREENING
.
59
5.1
NEWBORN
SCREENING
FOR
INHERITED
METABOLIC
DISEASES
.
59
5.2
NEWBORN
SCREENING
FOR
NON-METABOLIC
DISORDERS
.
65
II
METABOLIC
PATHWAYS
AND
THEIR
DISORDERS
.
67
6
DISORDERS
OF
AMINO
ACID
METABOLISM
.
67
6.1
PRINCIPLES
OF
TREATMENT
.
68
6.2
UREA
CYCLE
DISORDERS
AND
INHERITED
HYPERAMMONEMIAS
.
70
6.3
ORGANIC
ACIDURIAS
.
75
6.4
DISORDERS
OF
BRANCHED-CHAIN
AMINO
ACID
METABOLISM
.
82
6.5
DISORDERS
OF
PHENYLALANINE
AND
TYROSINE
METABOLISM
.
84
6.6
DISORDERS
OF
THE
METABOLISM
OF
SULFUR
AMINO
ACIDS
AND
HYDROGEN
SULFIDE
.
87
6.7
DISORDERS
OF
SERINE
AND
GLYCINE
METABOLISM
.
91
6.8
DISORDERS
OF
ORNITHINE,
PROLINE,
HYDROXYPROLINE,
GLYOXYLATE
AND
OXALATE
METABOLISM
.
93
6.9
DISORDERS
OF
LYSINE,
HYDROXYLYSINE,
TRYPTOPHAN
AND
HISTIDINE
METABOLISM
.
95
6.10
DISORDERS
OF
GLUTAMATE/GLUTAMINE
AND
ASPARTATE/ASPARAGINE
METABOLISM
.
97
6.11
DISORDERS
OF
AMINO
ACID
TRANSPORT
.
98
6.12
OTHER
DISORDERS
OF
AMINO
ACID
METABOLISM
.
100
7
DISORDERS
OF
PEPTIDE
AND
AMINE
METABOLISM
.
101
7.1
DISORDERS
OF
GLUTATHIONE
METABOLISM
.
101
7.2
OTHER
DISORDERS
OF
PEPTIDE
METABOLISM
.
102
7.3
DISORDERS
OF
METHYLAMINE
AND
POLYAMINE
METABOLISM
.
103
8
DISORDERS
OF
CARBOHYDRATE
METABOLISM
.
105
8.1
DISORDERS
OF
GALACTOSE
AND
FRUCTOSE
METABOLISM
.
107
8.2
DISORDERS
OF
GLUCONEOGENESIS
.
109
8.3
DISORDERS
OF
GLYCOGEN
METABOLISM
AND
GLYCOLYSIS
.
ILL
8.4
DISORDERS
OF
PENTOSE
METABOLISM
.
114
8.5
DISORDERS
OF
HEXOSE
TRANSMEMBRANE
TRANSPORT
AND
ABSORPTION
.
115
CONTENTS
VII
9
DISORDERS
OF
FATTY
ACID,
CARNITINE
AND
KETONE
BODY
METABOLISM
.
116
9.1
DISORDERS
OF
MITOCHONDRIAL
FATTY
ACID
OXIDATION
AND
CARNITINE
METABOLISM
.
117
9.2
DISORDERS
OFKETONE
BODY
METABOLISM
.
121
10
DISORDERS
OF
METABOLITE
PROOFREADING
.
123
11
DISORDERS
OF
ENERGY
METABOLISM
.
124
11.1
DISORDERS
OF
PYRUVATE
METABOLISM
AND
THE
KREBS
CYCLE
.
126
11.2
DISORDERS
OF
CREATINE
BIOSYNTHESIS
.
129
11.3
MITOCHONDRIAL
RESPIRATORY
CHAIN
DISORDERS
.
130
11.4
SYNDROMIC
MITOCHONDRIAL
DISORDERS
.
139
11.5
ORGAN-BASED
APPROACH
TO
MITOCHONDRIAL
DISORDERS
.
145
11.6
MOLECULAR
AND
FUNCTIONAL
CLASSIFICATION
OF
MITOCHONDRIAL
DISORDERS
147
12
DISORDERS
OF
LIPID
METABOLISM
.
150
12.1
DISORDERS
OF
FATTY
ACYL
SYNTHESIS,
ELONGATION,
AND
RECYCLING
.
152
12.2
DISORDERS
OF
PEROXISOMAL
FATTY
ACID
OXIDATION
AND
PEROXISOME
BIOGENESIS
.
153
12.3
DISORDERS
OF
EICOSANOID
METABOLISM
.
156
12.4
DISORDERS
OF
GLYCEROLIPID
METABOLISM
.
156
12.5
DISORDERS
OF
GLYCEROPHOSPHOLIPID
METABOLISM
.
157
12.6
DISORDERS
OF
SPHINGOLIPID
SYNTHESIS AND
RECYCLING
.
158
12.7
DISORDERS
OF
STEROL
SYNTHESIS
.
160
12.8
DISORDERS
OFBILE
ACID
METABOLISM
.
163
13
DISORDERS
OF
LIPOPROTEIN
METABOLISM
.
165
13.1
HYPERCHOLESTEROLEMIAS
.
166
13.2
HYPERTRIGLYCERIDEMIAS
.
168
13.3
MIXED
HYPERLIPIDEMIAS
.
169
13.4
DISORDERS
OF
HIGH-DENSITY
LIPOPROTEIN
(HDL)
METABOLISM
.
170
13.5
DISORDERS
WITH
DECREASED
LDL
CHOLESTEROL
AND
TRIGLYCERIDES
.
171
14
DISORDERS
OF
PURINE,
PYRIMIDINE
AND
NUCLEOTIDE
METABOLISM
.
172
14.1
DISORDERS
OF
PURINE
METABOLISM
.
175
14.2
DISORDERS
OF
PYRIMIDINE
METABOLISM
.
178
15
DISORDERS
OF
TETRAPYRROLE
METABOLISM,
PORPHYRIAS
.
180
15.1
PORPHYRIAS
.
181
16
CONGENITAL
DISORDERS
OF
GLYCOSYLATION
(CDG)
.
183
16.1
DISORDERS
OF
N-LINKED
PROTEIN
GLYCOSYLATION
.
183
16.2
DISORDERS
OF
O-LINKED
PROTEIN
GLYCOSYLATION
.
186
VIII
CONTENTS
16.3
DISORDERS
OF
LIPID
GLYCOSYLATION/GPI
ANCHOR
BIOSYNTHESIS
.
187
16.4
DISORDERS
OF
MULTIPLE
GLYCOSYLATION
PATHWAYS
.
188
17
DISORDERS
OF
COMPLEX
MOLECULE
DEGRADATION
-
LYSOSOMAL
DISORDERS
.
190
17.1
DISORDERS
OF
SPHINGOLIPID
DEGRADATION/SPHINGOLIPIDOSES
.
196
17.2
DISORDERS
OF
GLYCOSAMINOGLYCAN
DEGRADATION/
MUCOPOLYSACCHARIDOSES
(MPS)
.
200
17.3
DISORDERS
OF
GLYCOPROTEIN
DEGRADATION/OLIGOSACCHARIDOSES
.
203
17.4
NEURONAL
CEROID
LIPOFUSCINOSES,
NCL
.
204
17.5
OTHER
DISORDERS
OF
COMPLEX
MOLECULE
DEGRADATION
.
206
18
DISORDERS
OF
VITAMIN
AND
COFACTOR
METABOLISM
.
208
18.1
DISORDERS
OF
PTERIN
(TETRAHYDROBIOPTERIN)
METABOLISM
.
208
18.2
DISORDERS
OF
COBALAMIN
ABSORPTION,
TRANSPORT
AND
METABOLISM
.
210
18.3
DISORDERS
OF
FOLATE
METABOLISM
AND
TRANSPORT
.
212
18.4
DISORDERS
OF
BIOTIN
METABOLISM
.
214
18.5
DISORDERS
OF
VITAMIN
B
6
(PYRIDOXAL
PHOSPHATE)
METABOLISM
.
215
18.6
OTHER
DISORDERS
OF
VITAMIN
METABOLISM
.
218
19
DISORDERS
OF
THE
METABOLISM
OF
TRACE
ELEMENTS
AND
METALS
220
19.1
DISORDERS
OF
COPPER
METABOLISM
.
220
19.2
DISORDERS
OF
IRON
METABOLISM
.
222
19.3
DISORDERS
IN
THE
METABOLISM
OF
OTHER
TRACE
ELEMENTS
AND
METALS
225
20
NEUROTRANSMITTER
DISORDERS
.
226
20.1
MONOAMINE
NEUROTRANSMITTER
DISORDERS
.
226
20.2
DISORDERS
OF
GABA
METABOLISM
.
228
20.3
OTHER
NEUROMETABOLIC
DISORDERS
.
229
21
ENDOCRINE
METABOLIC
DISEASES
.
230
21.1
DISORDERS
OF
INSULIN
REGULATION,
CONGENITAL
HYPERINSULINISM,
CHI
230
APPENDIX
.
233
HELPFUL
INTERNET
RESOURCES
.
233
FREE
FATTY
ACIDS
AND
3-HYDROXYBUTYRATE
DURING
FASTING
.
235
GENES
.
236
INDEX
.
241
EMERGENCY
MEDICATION
.
252
v Contents Foreword. IX Preface . X Abbreviations. XI I Diagnosis and Management of Inherited Metabolic Disorders 1 1 Basic laboratory tests . 1 2 Important clinical constellations 2 . 2.1 General considerations . 2.2 The metabolic emergency . 2.3 Hypoglycemia . 2.4 Hyperammonemia . 2.5 Metabolic acidosis and ketosis . 2.6 Elevated lactate concentrations . 2.7 Intellectual disability. 2.8 Epileptic encephalopathy. 2.9 Ataxias . 2.10 The floppy infant . 2.11 Exercise intolerance
. 2.12 Cardiomyopathy. 2.13 Dysmorphic features. 2.14 Liver disease/liver failure. 2.15 Sudden unexpected death (in infancy). 2.16 Post-mortem investigations. 2.17 Fetal hydrops. 2.18 Unusual clinical observations. 2.19 Unexpected laboratory findings . 2.20 Special metabolic investigations are not required in. 2 3 6 8 12 14 16 17 20 21 21 22 23 25 31 32 33 34 36 37 3 Special metabolic investigations . 38 3.1 3.2 3.3 3.4 3.5 3.6 3.7 Simple metabolic urine tests . Amino acids (AA) . Organic acids (OA) . Carnitine analyses. Other special metabolic investigations. Biopsies and enzyme studies
. Molecular genetic investigations. 39 39 41 42 43 48 48
VI Contents 4 Function tests . 52 4.1 4.2 4.3 4.4 4.5 Metabolic profiling . Prolonged fasting test. Glucagon test . Tetrahydrobiopterin responsiveness (BH4) test . Phenylalanine loading test . 52 53 56 56 58 5 Newborn screening . 59 5.1 5.2 Newborn screening for inherited metabolic diseases . Newborn screening for non-metabolic disorders . 59 65 II Metabolic pathways and their discw ders. 67 6 Disorders of amino acid metabolism . 67 6.1 6.2 6.3 6.4 6.5 6.6 Principles of treatment. 68 Urea cycle disorders and inherited hyperammonemias. 70 Organic acidurias. 76 Disorders of branched-chain amino acid metabolism . 82 Disorders of phenylalanine and tyrosine metabolism . 84 Disorders of the metabolism of sulfur amino acids and hydrogen
sulfide. 87 Disorders of serine and glycine metabolism . 91 Disorders of ornithine, proline, hydroxyproline, glyoxylate and oxalate metabolism . 93 Disorders of lysine, hydroxylysine, tryptophan and histidine metabolism. 95 Disorders of glutamate/glutamine and aspartate/asparagine metabolism . 97 Disorders of amino acid transport . 98 Other disorders of amino acid metabolism . 100 6.7 6.8 6.9 6.10 6.11 6.12 7 Disorders of peptide and amine metabolism . 101 7.1 7.2 7.3 Disorders of glutathione metabolism . Other disorders of peptide metabolism. Disorders of methylamine and polyamine metabolism . 101 102 103 8 Disorders of carbohydrate metabolism . 105 8.1 8.2 8.3 8.4 8.5 Disorders of galactose and fructose metabolism. Disorders of gluconeogenesis . Disorders of glycogen metabolism and glycolysis. Disorders of pentose metabolism. Disorders of hexose transmembrane transport and absorption . 107 109 Ill
114 115
Contents VII Disorders of fatty acid, carnitine and ketone body metabolism . 116 9.2 Disorders of mitochondrial fatty acid oxidation and carnitine metabolism . Disorders of ketone body metabolism . 117 121 10 Disorders of metabolite proofreading . 123 11 Disorders of energy metabolism . 124 11.1 11.2 11.3 11.4 11.5 11.6 Disorders of pyruvate metabolism and the Krebs cycle. 126 Disorders of creatine biosynthesis. 129 Mitochondrial respiratory chain disorders . 130 Syndromic mitochondrial disorders . 139 Organ-based approach to mitochondrial disorders . 145 Molecular and functional classification of mitochondrial disorders 147 12 Disorders of lipid metabolism . 150 12.1 12.2 152 12.3 12.4 12.5 12.6 12.7 12.8 Disorders of fatty acyl synthesis, elongation, and recycling. Disorders of peroxisomal fatty acid oxidation and peroxisome biogenesis . Disorders of eicosanoid metabolism . Disorders of glycerolipid metabolism . Disorders of
glycerophospholipid metabolism . Disorders of sphingolipid synthesis and recycling . Disorders of sterol synthesis. Disorders of bile acid metabolism. 13 Disorders of lipoprotein metabolism . 165 13.1 13.2 13.3 13.4 13.5 Hypercholesterolemias . Hypertriglyceridemias. Mixed hyperlipidemias . Disorders of high-density lipoprotein (HDL) metabolism . Disorders with decreased LDL cholesterol and triglycerides . 166 168 169 170 171 9 9.1 153 156 156 157 158 160 163 14 Disorders of purine, pyrimidine and nucleotide metabolism . 172 14.1 14.2 Disorders of purine metabolism . Disorders of pyrimidine metabolism . 175 178 15 Disorders of tetrapyrrole metabolism, porphyrias. 180 15.1 Porphyrias. 181 16 Congenital disorders of glycosylation (CDC) . 183 16.1 16.2 Disorders of N-linked protein glycosylation . Disorders of О-linked protein glycosylation . 183 186
Vili Contents 16.3 16.4 Disorders of lipid glycosylation/CPI anchor biosynthesis. Disorders of multiple glycosylation pathways . 187 188 17 Disorders of complex molecule degradation lysosomal disorders . 190 17.1 17.2 17.3 17.4 17.5 Disorders of sphingolipid degradation/sphingolipidoses. Disorders of glycosaminoglycan degradation/ mucopolysaccharidoses (MPS). Disorders of glycoprotein degradation/oligosaccharidoses. Neuronal ceroid lipofuscinoses, NCL. Other disorders of complex molecule degradation . 200 203 204 206 18 Disorders of vitamin and cofactor metabolism . 208 18.1 18.2 18.3 18.4 18.5 18.6 Disorders of pterin (tetrahydrobiopterin) metabolism . Disorders of cobalamin absorption, transport and metabolism . Disorders of folate metabolism and transport . Disorders of biotin metabolism . Disorders of vitamin B6 (pyridoxal phosphate) metabolism . Other disorders of vitamin metabolism. 208 210 212 214 215 218 19 Disorders of the metabolism of trace elements and metals 220 196 19.1 Disorders of copper metabolism . 19.2 Disorders of iron metabolism . 19.3 Disorders in the
metabolism of other trace elements and metals 220 222 225 20 Neurotransmitter disorders . 226 20.1 20.2 20.3 Monoamine neurotransmitter disorders. Disorders of GABA metabolism . Other neurometabolic disorders . 226 228 229 21 Endocrine metabolic diseases. 21.1 Disorders of insulin regulation, congenital hyperinsulinism, CHI Appendix 230 230 .233 Helpful internet resources . Free fatty acids and 3-hydroxybutyrate during fasting . 233 235 Genes . 236 Index. 241 Emergency medication. 252 |
| any_adam_object | 1 |
| any_adam_object_boolean | 1 |
| author | Zschocke, Johannes 1964- Hoffmann, Georg F. 1957- |
| author_GND | (DE-588)130300748 (DE-588)115652868 |
| author_facet | Zschocke, Johannes 1964- Hoffmann, Georg F. 1957- |
| author_role | aut aut |
| author_sort | Zschocke, Johannes 1964- |
| author_variant | j z jz g f h gf gfh |
| building | Verbundindex |
| bvnumber | BV047119540 |
| classification_rvk | YC 6219 |
| ctrlnum | (OCoLC)1235995776 (DE-599)DNB1224488504 |
| discipline | Medizin |
| discipline_str_mv | Medizin |
| edition | 5th edition |
| format | Book |
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| id | DE-604.BV047119540 |
| illustrated | Not Illustrated |
| index_date | 2024-07-03T16:28:53Z |
| indexdate | 2024-07-10T09:03:10Z |
| institution | BVB |
| institution_GND | (DE-588)1064287301 |
| isbn | 9783132435513 3132435511 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-032525880 |
| oclc_num | 1235995776 |
| open_access_boolean | |
| owner | DE-578 DE-384 |
| owner_facet | DE-578 DE-384 |
| physical | XII, 252 Seiten |
| publishDate | 2020 |
| publishDateSearch | 2020 |
| publishDateSort | 2020 |
| publisher | Thieme Nutricia |
| record_format | marc |
| spelling | Zschocke, Johannes 1964- Verfasser (DE-588)130300748 aut Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders Johannes Zschocke, Inssbruck, Austria, Georg F. Hoffmann, Heidelberg, Germany ; foreword by William L. Nyhan, San Diego, USA 5th edition Stuttgart Thieme [2020] Erlangen Nutricia © 2020 XII, 252 Seiten txt rdacontent n rdamedia nc rdacarrier Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Allgemeinmedizin Pädiatrie Stoffwechselkrankheiten Schattauer 128 Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Hoffmann, Georg F. 1957- Verfasser (DE-588)115652868 aut Georg Thieme Verlag KG (DE-588)1064287301 pbl DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032525880&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Augsburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032525880&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p vlb 20210105 DE-101 https://d-nb.info/provenance/plan#vlb |
| spellingShingle | Zschocke, Johannes 1964- Hoffmann, Georg F. 1957- Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4057700-4 |
| title | Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders |
| title_auth | Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders |
| title_exact_search | Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders |
| title_exact_search_txtP | Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders |
| title_full | Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders Johannes Zschocke, Inssbruck, Austria, Georg F. Hoffmann, Heidelberg, Germany ; foreword by William L. Nyhan, San Diego, USA |
| title_fullStr | Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders Johannes Zschocke, Inssbruck, Austria, Georg F. Hoffmann, Heidelberg, Germany ; foreword by William L. Nyhan, San Diego, USA |
| title_full_unstemmed | Vademecum metabolicum diagnosis and treatment of inherited metabolic disorders Johannes Zschocke, Inssbruck, Austria, Georg F. Hoffmann, Heidelberg, Germany ; foreword by William L. Nyhan, San Diego, USA |
| title_short | Vademecum metabolicum |
| title_sort | vademecum metabolicum diagnosis and treatment of inherited metabolic disorders |
| title_sub | diagnosis and treatment of inherited metabolic disorders |
| topic | Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Angeborene Krankheit Stoffwechselkrankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032525880&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032525880&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT zschockejohannes vademecummetabolicumdiagnosisandtreatmentofinheritedmetabolicdisorders AT hoffmanngeorgf vademecummetabolicumdiagnosisandtreatmentofinheritedmetabolicdisorders AT georgthiemeverlagkg vademecummetabolicumdiagnosisandtreatmentofinheritedmetabolicdisorders |
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