A clinical guide to inherited metabolic diseases:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Cambridge
Cambridge Univ. Press
2006
|
| Ausgabe: | 3. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis Klappentext |
| Beschreibung: | XX, 338 S. Ill., graph. Darst. |
| ISBN: | 0521614996 9780521614993 |
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| 100 | 1 | |a Clarke, Joe T. R. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a A clinical guide to inherited metabolic diseases |c Joe T. R. Clarke |
| 250 | |a 3. ed. | ||
| 264 | 1 | |a Cambridge |b Cambridge Univ. Press |c 2006 | |
| 300 | |a XX, 338 S. |b Ill., graph. Darst. | ||
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| 650 | 2 | |a Diagnostic différentiel | |
| 650 | 2 | |a Erreurs innées du métabolisme - Diagnostic | |
| 650 | 2 | |a Erreurs innées du métabolisme - Génétique | |
| 650 | 2 | |a Erreurs innées du métabolisme - Thérapeutique | |
| 650 | 7 | |a Métabolisme, Troubles du, chez l'enfant |2 ram | |
| 650 | 4 | |a Diagnosis, Differential | |
| 650 | 4 | |a Laboratory Techniques and Procedures | |
| 650 | 4 | |a Metabolism, Inborn Errors |x diagnosis | |
| 650 | 4 | |a Metabolism, Inborn Errors |x genetics | |
| 650 | 4 | |a Metabolism, Inborn Errors |x therapy | |
| 650 | 4 | |a Metabolism, Inborn errors of | |
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Datensatz im Suchindex
| _version_ | 1804135350201745408 |
|---|---|
| adam_text | Contents
Reviews
Reviews of second edition xi
List of tables xii
List of figures xvi
Preface xix
General principles
Introduction
Some general metabolic concepts
Disease results from point defects in metabolism
Accumulation of substrate
Accumulation of a normally minor metabolite
Deficiency of product
Secondary metabolic phenomena
Inborn errors of metabolism are inherited
Autosomal recessive disorders
X-linked recessive disorders
Autosomal dominant disorders
Mitochondrial inheritance
Inherited metabolic diseases may present at any age
Three sources of diagnostic confusion
Confusion with common acquired conditions
Confusion caused by association with
intercurrent
Confusion arising from genetic heterogeneity
Congenital malformations and inborn errors of metabolism
The internet is particularly important
Suggested reading
Neurologic syndrome
Chronic encephalopathy
Gray matter disease (poliodystrophy)
Psychomotor retardation or dementia
Seizures
White matter disease (leukodystrophy)
vi
Chronic encephalopathy
involvement
Acute encephalopathy
Hyperammonemia
Leucine encephalopathy (maple syrup urine
disease-MSUD)
Reye-like acute encephalopathy (fatty acid
oxidation defects)
Acute encephalopathy with metabolic acidosis
Hypoglycemia
Stroke
Movement disorder
Ataxia
Choreoathetosis and dystonia
Parkinsonism
Myopathy
Acute intermittent muscle weakness
Progressive muscle weakness
Myoglobinuria (myophosphorylase deficiency phenotype)
Myoglobinuria (CPTII deficiency phenotype)
Myopathy as a manifestation of multisystem disease (mitochondrial
Autonomie
Psychiatric problems
Suggested reading
Metabolic acidosis
Buffers, ventilation, and the kidney
Is the metabolic acidosis the result of abnormal losses of bicarbonate or accumulation of acid?
Metabolic acidosis caused by abnormal bicarbonate losses
Metabolic acidosis resulting from accumulation of
organic anion
Lactic acidosis
Pyruvate accumulation
PDH deficiency
PC deficiency
Multiple carboxylase deficiency
NADH accumulation
Ketoacidosis
Mitochondrial acetoacetyl-CoA thiolase
deficiency
Succinyl-CoA:3-ketoacid CoA transferase
(SCOT) deficiency
Organic aciduria
Methyimalonic acidemia (MMA)
3-Hydroxy-3-methylglutaryl-CoA
(HMG-CoA) lyase deficiency
Glutaric aciduria
Dicarboxylic aciduria
Ethylmalonic aciduria
D-Lactic acidosis
vii
Adventitious organic aciduria
Suggested reading
Hepatic syndrome
Jaundice
Unconjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
Hepatomegaly
Hypoglycemia
Ways to increase glucose production
Ways to decrease peripheral glucose utilization
An approach to the differential diagnosis of
hypoglycemia
Hepatocellular dysfunction
Investigation
Liver function tests
Fasting tests
Suggested reading
Cardiac syndromes
Cardiomyopathy
Initial investigation of possible inherited metabolic
cardiomyopathy
Glycogen storage disease, type II (GSD II or
Pompe
Primary systemic carnitine deficiency
Fabry disease
Mitochondrial
Arrhythmias
Coronary artery disease
Familial hypercholesterolemia
Suggested reading
Storage syndrome and dysmorphism
General characteristics of the dysmorphism resulting
from inborn errors of metabolism
What are the types of inherited metabolic diseases in which dysmorphism might be expected
to be prominent?
Lysosomal disorders
Peroxisomal disorders
Mitochondrial disorders
Biosynthetic defects
What sort of metabolic studies are most likely to be
diagnostically productive in the investigation of dysmorphism?
Suggested reading
Acute metabolic illness in the newborn
Suspicion
Initial laboratory investigation
Five clinical syndromes
viíí
Encephalopathy without metabolic acidosis
Maple syrup urine disease (MSUD)
Urea cycle enzyme defects (UCED)
Nonketotic hyperglycinemia (NKHG)
Pyridoxine-dependent seizures
Peroxisomal disorders (Zellweger syndrome)
Molybdenum cofactor deficiency
oxidase/xanthine
Encephalopathy with metabolic acidosis
Organic acidurias
Congenital lactic acidosis
Dicarboxylic aciduria
Neonatal hepatic syndrome
Jaundice
Severe hepatocellular dysfunction
Hypoglycemia
Cardiac syndrome
Intractable cardiac arrhythmias
Cardiomyopathy
Nonimmune
Initial management
Summary comments
Suggested reading
Newborn screening
Screening for medical intervention
Screening for reproductive planning
Screening to answer epidemiological questions
Case-finding
Problems created by false positive screening tests
Screening technology
Bacterial inhibition assays
Tandem MSMS
Radioimmunoassay
Enzyme assay
Specific mutation testing
Suggested reading
Laboratory investigation
Studies on the extent and severity of pathology
Studies directed at the classification of disease processes (the metabolic screen )
Investigation of small molecule disease
Plasma ammonium
Plasma lactate and pyruvate
Plasma ketones and free fatty acids
Amino
Neurotransmitters
Organic acid analysis
Acylcarnitines and acylglycines
Porphyrins
Approaches to the investigation of metabolic disorders
ix Contents
Cellular metabolic screening studies
Provocative testing
Enzymology
Molecular genetic studies
Investigation of organelle disease
Lysosomal disorders
Disorders of mitochondrial energy metabolism
Peroxisomal disorders
Suggested reading
10
Control of accumulation of substrate
Restricted dietary intake
Control of endogenous production of substrate
Acceleration of removal of substrate
Replacement of product
Reaction product replacement
Gene product replacement
Gene product stabilization
Cofactor replacement therapy
Mitochondrial electron transport defects
Gene transfer therapy
Organtransplantation 314
Single gene transfer therapy
Supportive measures
Special considerations for adults with inherited metabolic diseases
Suggested reading
Index
This user-friendly clinical handbook provides
a clear and concise overview of how to go
about recognizing and diagnosing inherited
metabolic diseases. The reader is ted through
the diagnostic process from the identification
of those features of an illness suggestingthat
it might be metabolic through the selection
of appropriate laboratory investigation to a
final diagnosis.
The book is organized into chapters
according to the most prominent presenting
problem of patients with inherited metabolic
diseases: neurologic hepatic, cardiac,
metabolic acidosis, dysmorphfsm, and acute
catastrophic illness in the newborn, it also
includes chapters on general principles,
laboratory investigation, neonatal screening,
and the principles of treatment
This new edition includes much greater
depth on mitochondrial disease and congen¬
ital disorders of glycosylation. The chapters
on neurological syndrome and newborn
screening are greatly expanded, as are those
on laboratory investigation and treatment, to
take account of the very latest technological
developments.
|
| adam_txt |
Contents
Reviews
Reviews of second edition xi
List of tables xii
List of figures xvi
Preface xix
General principles
Introduction
Some general metabolic concepts
Disease results from point defects in metabolism
Accumulation of substrate
Accumulation of a normally minor metabolite
Deficiency of product
Secondary metabolic phenomena
Inborn errors of metabolism are inherited
Autosomal recessive disorders
X-linked recessive disorders
Autosomal dominant disorders
Mitochondrial inheritance
Inherited metabolic diseases may present at any age
Three sources of diagnostic confusion
Confusion with common acquired conditions
Confusion caused by association with
intercurrent
Confusion arising from genetic heterogeneity
Congenital malformations and inborn errors of metabolism
The internet is particularly important
Suggested reading
Neurologic syndrome
Chronic encephalopathy
Gray matter disease (poliodystrophy)
Psychomotor retardation or dementia
Seizures
White matter disease (leukodystrophy)
vi
Chronic encephalopathy
involvement
Acute encephalopathy
Hyperammonemia
Leucine encephalopathy (maple syrup urine
disease-MSUD)
Reye-like acute encephalopathy (fatty acid
oxidation defects)
Acute encephalopathy with metabolic acidosis
Hypoglycemia
Stroke
Movement disorder
Ataxia
Choreoathetosis and dystonia
Parkinsonism
Myopathy
Acute intermittent muscle weakness
Progressive muscle weakness
Myoglobinuria (myophosphorylase deficiency phenotype)
Myoglobinuria (CPTII deficiency phenotype)
Myopathy as a manifestation of multisystem disease (mitochondrial
Autonomie
Psychiatric problems
Suggested reading
Metabolic acidosis
Buffers, ventilation, and the kidney
Is the metabolic acidosis the result of abnormal losses of bicarbonate or accumulation of acid?
Metabolic acidosis caused by abnormal bicarbonate losses
Metabolic acidosis resulting from accumulation of
organic anion
Lactic acidosis
Pyruvate accumulation
PDH deficiency
PC deficiency
Multiple carboxylase deficiency
NADH accumulation
Ketoacidosis
Mitochondrial acetoacetyl-CoA thiolase
deficiency
Succinyl-CoA:3-ketoacid CoA transferase
(SCOT) deficiency
Organic aciduria
Methyimalonic acidemia (MMA)
3-Hydroxy-3-methylglutaryl-CoA
(HMG-CoA) lyase deficiency
Glutaric aciduria
Dicarboxylic aciduria
Ethylmalonic aciduria
D-Lactic acidosis
vii
Adventitious organic aciduria
Suggested reading
Hepatic syndrome
Jaundice
Unconjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
Hepatomegaly
Hypoglycemia
Ways to increase glucose production
Ways to decrease peripheral glucose utilization
An approach to the differential diagnosis of
hypoglycemia
Hepatocellular dysfunction
Investigation
Liver function tests
Fasting tests
Suggested reading
Cardiac syndromes
Cardiomyopathy
Initial investigation of possible inherited metabolic
cardiomyopathy
Glycogen storage disease, type II (GSD II or
Pompe
Primary systemic carnitine deficiency
Fabry disease
Mitochondrial
Arrhythmias
Coronary artery disease
Familial hypercholesterolemia
Suggested reading
Storage syndrome and dysmorphism
General characteristics of the dysmorphism resulting
from inborn errors of metabolism
What are the types of inherited metabolic diseases in which dysmorphism might be expected
to be prominent?
Lysosomal disorders
Peroxisomal disorders
Mitochondrial disorders
Biosynthetic defects
What sort of metabolic studies are most likely to be
diagnostically productive in the investigation of dysmorphism?
Suggested reading
Acute metabolic illness in the newborn
Suspicion
Initial laboratory investigation
Five clinical 'syndromes'
viíí
Encephalopathy without metabolic acidosis
Maple syrup urine disease (MSUD)
Urea cycle enzyme defects (UCED)
Nonketotic hyperglycinemia (NKHG)
Pyridoxine-dependent seizures
Peroxisomal disorders (Zellweger syndrome)
Molybdenum cofactor deficiency
oxidase/xanthine
Encephalopathy with metabolic acidosis
Organic acidurias
Congenital lactic acidosis
Dicarboxylic aciduria
Neonatal hepatic syndrome
Jaundice
Severe hepatocellular dysfunction
Hypoglycemia
Cardiac syndrome
Intractable cardiac arrhythmias
Cardiomyopathy
Nonimmune
Initial management
Summary comments
Suggested reading
Newborn screening
Screening for medical intervention
Screening for reproductive planning
Screening to answer epidemiological questions
Case-finding
Problems created by false positive screening tests
Screening technology
Bacterial inhibition assays
Tandem MSMS
Radioimmunoassay
Enzyme assay
Specific mutation testing
Suggested reading
Laboratory investigation
Studies on the extent and severity of pathology
Studies directed at the classification of disease processes (the 'metabolic screen')
Investigation of 'small molecule disease'
Plasma ammonium
Plasma lactate and pyruvate
Plasma ketones and free fatty acids
Amino
Neurotransmitters
Organic acid analysis
Acylcarnitines and acylglycines
Porphyrins
Approaches to the investigation of metabolic disorders
ix Contents
Cellular metabolic screening studies
Provocative testing
Enzymology
Molecular genetic studies
Investigation of'organelle disease'
Lysosomal disorders
Disorders of mitochondrial energy metabolism
Peroxisomal disorders
Suggested reading
10
Control of accumulation of substrate
Restricted dietary intake
Control of endogenous production of substrate
Acceleration of removal of substrate
Replacement of product
Reaction product replacement
Gene product replacement
Gene product stabilization
Cofactor replacement therapy
Mitochondrial electron transport defects
Gene transfer therapy
Organtransplantation 314
Single gene transfer therapy
Supportive measures
Special considerations for adults with inherited metabolic diseases
Suggested reading
Index
This user-friendly clinical handbook provides
a clear and concise overview of how to go
about recognizing and diagnosing inherited
metabolic diseases. The reader is ted through
the diagnostic process from the identification
of those features of an illness suggestingthat
it might be metabolic through the selection
of appropriate laboratory investigation to a
final diagnosis.
The book is organized into chapters
according to the most prominent presenting
problem of patients with inherited metabolic
diseases: neurologic hepatic, cardiac,
metabolic acidosis, dysmorphfsm, and acute
catastrophic illness in the newborn, it also
includes chapters on general principles,
laboratory investigation, neonatal screening,
and the principles of treatment
This new edition includes much greater
depth on mitochondrial disease and congen¬
ital disorders of glycosylation. The chapters
on neurological syndrome and newborn
screening are greatly expanded, as are those
on laboratory investigation and treatment, to
take account of the very latest technological
developments. |
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| edition | 3. ed. |
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| id | DE-604.BV021579372 |
| illustrated | Illustrated |
| index_date | 2024-07-02T14:41:10Z |
| indexdate | 2024-07-09T20:39:06Z |
| institution | BVB |
| isbn | 0521614996 9780521614993 |
| language | English |
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| physical | XX, 338 S. Ill., graph. Darst. |
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| publisher | Cambridge Univ. Press |
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| spelling | Clarke, Joe T. R. Verfasser aut A clinical guide to inherited metabolic diseases Joe T. R. Clarke 3. ed. Cambridge Cambridge Univ. Press 2006 XX, 338 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Diagnostic différentiel Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Génétique Erreurs innées du métabolisme - Thérapeutique Métabolisme, Troubles du, chez l'enfant ram Diagnosis, Differential Laboratory Techniques and Procedures Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors genetics Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Digitalisierung UBRegensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014795064&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014795064&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Clarke, Joe T. R. A clinical guide to inherited metabolic diseases Diagnostic différentiel Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Génétique Erreurs innées du métabolisme - Thérapeutique Métabolisme, Troubles du, chez l'enfant ram Diagnosis, Differential Laboratory Techniques and Procedures Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors genetics Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4057700-4 |
| title | A clinical guide to inherited metabolic diseases |
| title_auth | A clinical guide to inherited metabolic diseases |
| title_exact_search | A clinical guide to inherited metabolic diseases |
| title_exact_search_txtP | A clinical guide to inherited metabolic diseases |
| title_full | A clinical guide to inherited metabolic diseases Joe T. R. Clarke |
| title_fullStr | A clinical guide to inherited metabolic diseases Joe T. R. Clarke |
| title_full_unstemmed | A clinical guide to inherited metabolic diseases Joe T. R. Clarke |
| title_short | A clinical guide to inherited metabolic diseases |
| title_sort | a clinical guide to inherited metabolic diseases |
| topic | Diagnostic différentiel Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Génétique Erreurs innées du métabolisme - Thérapeutique Métabolisme, Troubles du, chez l'enfant ram Diagnosis, Differential Laboratory Techniques and Procedures Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors genetics Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Diagnostic différentiel Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Génétique Erreurs innées du métabolisme - Thérapeutique Métabolisme, Troubles du, chez l'enfant Diagnosis, Differential Laboratory Techniques and Procedures Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors genetics Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit Stoffwechselkrankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014795064&sequence=000003&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=014795064&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT clarkejoetr aclinicalguidetoinheritedmetabolicdiseases |