A Clinical Guide to Inherited Metabolic Diseases

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ISBN: 9780521614993 | 0521614996
Cover: Paperback
Copyright: 1/30/2006

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This user-friendly clinical handbook provides a clear and concise overview of how to recognize and diagnose inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The new edition provides more in-depth coverage on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as well as those on laboratory investigation and treatment.

Reviews of first edition

Reviews of second edition

List of tables

xii

List of figures

xvi

Preface

xix

General principles

(27)

Introduction

(1)

Some general metabolic concepts

(2)

Disease results from point defects in metabolism

(5)

Accumulation of substrate

(2)

Accumulation of a normally minor metabolite

(1)

Deficiency of product

(2)

Secondary metabolic phenomena

(1)

Inborn errors of metabolism are inherited

(7)

Autosomal recessive disorders

(2)

X-linked recessive disorders

(2)

Autosomal dominant disorders

(1)

Mitochondrial inheritance

(2)

Inherited metabolic diseases may present at any age

(1)

Three sources of diagnostic confusion

(4)

Confusion with common acquired conditions

(3)

Confusion caused by association with intercurrent illness

(1)

Confusion arising from genetic heterogeneity

(1)

Congenital malformations and inborn errors of metabolism

(1)

The internet is particularly important

(6)

Suggested reading

(1)

Neurologic syndrome

(62)

Chronic encephalopathy -- without non-neural involvement

(21)

Gray matter disease (poliodystrophy)

(1)

Psychomotor retardation or dementia

(5)

Seizures

(13)

White matter disease (leukodystrophy)

(3)

Chronic encephalopathy -- with non-neural tissue involvement

(3)

Acute encephalopathy

(10)

Hyperammonemia

(6)

Leucine encephalopathy (maple syrup urine disease -- MSUD)

(1)

Reye-like acute encephalopathy (fatty acid oxidation defects)

(2)

Acute encephalopathy with metabolic acidosis

(1)

Hypoglycemia

(1)

Stroke

(1)

Movement disorder

(9)

Ataxia

(6)

Choreoathetosis and dystonia

(2)

Parkinsonism

(1)

Myopathy

(7)

Acute intermittent muscle weakness

(1)

Progressive muscle weakness

(1)

Myoglobinuria (myophosphorylase deficiency phenotype)

(3)

Myoglobinuria (CPT II deficiency phenotype)

(1)

Myopathy as a manifestation of multisystem disease (mitochondrial myopathies)

(2)

Autonomic dysfunction

(1)

Psychiatric problems

(8)

Suggested reading

(3)

Metabolic acidosis

(26)

Buffers, ventilation, and the kidney

(2)

Is the metabolic acidosis the result of abnormal losses of bicarbonate or accumulation of acid?

(1)

Metabolic acidosis caused by abnormal bicarbonate losses

(2)

Metabolic acidosis resulting from accumulation of organic anion

(1)

Lactic acidosis

(6)

Pyruvate accumulation

(3)

PDH deficiency

(1)

PC deficiency

(1)

Multiple carboxylase deficiency

(1)

NADH accumulation

100

(1)

Ketoacidosis

101

(3)

Mitochondrial acetoacetyl-CoA thiolase deficiency (β-ketothiolase deficiency)

102

(1)

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

103

(1)

Organic aciduria

104

(11)

Methylmalonic acidemia (MMA)

104

(6)

3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency

110

(1)

Glutaric aciduria

110

(2)

Dicarboxylic aciduria

112

(1)

Ethylmalonic aciduria

113

(1)

D-Lactic acidosis

113

(1)

Adventitious organic aciduria

114

(1)

Suggested reading

115

(1)

Hepatic syndrome

116

(27)

Jaundice

116

(2)

Unconjugated hyperbilirubinemia

116

(2)

Conjugated hyperbilirubinemia

118

(1)

Hepatomegaly

118

(2)

Hypoglycemia

120

(13)

Ways to increase glucose production

120

(2)

Ways to decrease peripheral glucose utilization

122

(3)

An approach to the differential diagnosis of hypoglycemia

125

(8)

Hepatocellular dysfunction

133

(6)

Investigation

139

(2)

Liver function tests

139

(1)

Fasting tests

139

(2)

Suggested reading

141

(2)

Cardiac syndromes

143

(19)

Cardiomyopathy

143

(5)

Initial investigation of possible inherited metabolic cardiomyopathy

148

(5)

Glycogen storage disease, type II (GSD II or Pompe disease)

149

(2)

Primary systemic carnitine deficiency

151

(1)

Fabry disease

151

(1)

Mitochondrial cardiomyopathies

152

(1)

Arrhythmias

153

(2)

Coronary artery disease

155

(4)

Familial hypercholesterolemia

155

(4)

Suggested reading

159

(3)

Storage syndrome and dysmorphism

162

(36)

General characteristics of the dysmorphism resulting from inborn errors of metabolism

162

(2)

What are the types of inherited metabolic diseases in which dysmorphism might be expected to be prominent?

164

(31)

Lysosomal disorders

165

(13)

Peroxisomal disorders

178

(4)

Mitochondrial disorders

182

(1)

Biosynthetic defects

183

(12)

What sort of metabolic studies are most likely to be diagnostically productive in the investigation of dysmorphism?

195

(1)

Suggested reading

196

(2)

Acute metabolic illness in the newborn

198

(30)

Suspicion

198

(2)

Initial laboratory investigation

200

(2)

Five clinical `syndromes'

202

(1)

Encephalopathy without metabolic acidosis

203

(7)

Maple syrup urine disease (MSUD)

203

(2)

Urea cycle enzyme defects (UCED)

205

(3)

Nonketotic hyperglycinemia (NKHG)

208

(1)

Pyridoxine-dependent seizures

209

(1)

Peroxisomal disorders (Zellweger syndrome)

209

(1)

Molybdenum cofactor deficiency (sulfite oxidase/xanthine oxidase deficiency

209

(1)

Encephalopathy with metabolic acidosis

210

(5)

Organic acidurias

210

(3)

Congenital lactic acidosis

213

(1)

Dicarboxylic aciduria

214

(1)

Neonatal hepatic syndrome

215

(7)

Jaundice

215

(2)

Severe hepatocellular dysfunction

217

(3)

Hypoglycemia

220

(2)

Cardiac syndrome

222

(1)

Intractable cardiac arrhythmias

222

(1)

Cardiomyopathy

222

(1)

Nonimmune fetal hydrops

223

(1)

Initial management

223

(3)

Summary comments

226

(1)

Suggested reading

226

(2)

Newborn screening

228

(13)

Screening for medical intervention

230

(1)

Screening for reproductive planning

230

(1)

Screening to answer epidemiological questions

231

(1)

Case-finding

232

(1)

Problems created by false positive screening tests

232

(1)

Screening technology

233

(6)

Bacterial inhibition assays -- the `Guthrie test'

233

(2)

Tandem MSMS

235

(3)

Radioimmunoassay

238

(1)

Enzyme assay

238

(1)

Specific mutation testing

239

(1)

Suggested reading

239

(2)

Laboratory investigation

241

(56)

Studies on the extent and severity of pathology

245

(1)

Studies directed at the classification of disease processes (the `metabolic screen')

245

(1)

Investigation of `small molecule disease'

246

(17)

Plasma ammonium

246

(1)

Plasma lactate and pyruvate

246

(1)

Plasma ketones and free fatty acids

246

(1)

Amino acid analysis

247

(6)

Neurotransmitters

253

(1)

Organic acid analysis

254

(2)

Acylcarnitines and acylglycines

256

(4)

Porphyrins

260

(3)

Approaches to the investigation of metabolic disorders

263

(11)

Cellular metabolic screening studies

263

(4)

Provocative testing

267

(3)

Enzymology

270

(1)

Molecular genetic studies

271

(3)

Investigation of `organelle disease'

274

(21)

Lysosomal disorders

274

(11)

Disorders of mitochondrial energy metabolism

285

(6)

Peroxisomal disorders

291

(4)

Suggested reading

295

(2)

Treatment

297

(27)

Control of accumulation of substrate

297

(9)

Restricted dietary intake

297

(4)

Control of endogenous production of substrate

301

(2)

Acceleration of removal of substrate

303

(3)

Replacement of product

306

(3)

Reaction product replacement

306

(1)

Gene product replacement

307

(2)

Gene product stabilization

309

(1)

Cofactor replacement therapy

309

(4)

Mitochondrial electron transport defects

313

(1)

Gene transfer therapy

314

(4)

Organ transplantation

314

(3)

Single gene transfer therapy

317

(1)

Supportive measures

318

(1)

Special considerations for adults with inherited metabolic diseases

318

(3)

Suggested reading

321

(3)

Index

324

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A Clinical Guide to Inherited Metabolic Diseases

Summary

Table of Contents

Supplemental Materials

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A Clinical Guide to Inherited Metabolic Diseases

Summary

Table of Contents

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