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Overview
Here’s the complete overview of A Clinical Guide to Inherited Metabolic Diseases 3rd Edition PDF:
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.
Features of A Clinical Guide to Inherited Metabolic Diseases 3rd Edition PDF
Here’s a quick overview of the essential features of this book:
Table of Contents
Below is the complete table of contents offered inside A Clinical Guide to Inherited Metabolic Diseases 3rd Edition PDF:
| Section | Pages |
|---|---|
| Reviews of first edition | x |
| Reviews of second edition | xi |
| List of tables | xii |
| List of figures | xvi |
| Preface | xix |
| 1 General principles | 1 |
| Introduction | 1 |
| Some general metabolic concepts | 2 |
| Disease results from point defects in metabolism | 4 |
| Accumulation of substrate | 4 |
| Accumulation of a normally minor metabolite | 6 |
| Deficiency of product | 7 |
| Secondary metabolic phenomena | 9 |
| Inborn errors of metabolism are inherited | 9 |
| Autosomal recessive disorders | 9 |
| X-linked recessive disorders | 11 |
| Autosomal dominant disorders | 13 |
| Mitochondrial inheritance | 14 |
| Inherited metabolic diseases may present at any age | 16 |
| Three sources of diagnostic confusion | 17 |
| Congenital malformations and inborn errors of metabolism | 21 |
| The internet is particularly important | 21 |
| Suggested reading | 27 |
| 2 Neurologic syndrome | 28 |
| Chronic encephalopathy – without non-neural involvement | 29 |
| Gray matter disease (poliodystrophy) | 29 |
| Psychomotor retardation or dementia | 29 |
| Seizures | 34 |
| White matter disease (leukodystrophy) | 47 |
| Chronic encephalopathy – with non-neural tissue involvement | 50 |
| Acute encephalopathy | 53 |
| Hyperammonemia | 55 |
| Leucine encephalopathy (maple syrup urine disease – MSUD) | 61 |
| Reye-like acute encephalopathy (fatty acid oxidation defects) | 61 |
| Acute encephalopathy with metabolic acidosis | 63 |
| Hypoglycemia | 63 |
| Stroke | 63 |
| Movement disorder | 63 |
| Ataxia | 63 |
| Choreoathetosis and dystonia | 69 |
| Parkinsonism | 71 |
| Myopathy | 72 |
| Acute intermittent muscle weakness | 72 |
| Progressive muscle weakness | 73 |
| Myoglobinuria (myophosphorylase deficiency phenotype) | 74 |
| Myoglobinuria (CPT II deficiency phenotype) | 77 |
| Myopathy as a manifestation of multisystem disease (mitochondrial myopathies) | 77 |
| Autonomic dysfunction | 79 |
| Psychiatric problems | 79 |
| Suggested reading | 87 |
| 3 Metabolic acidosis | 90 |
| Buffers, ventilation, and the kidney | 90 |
| Is the metabolic acidosis the result of abnormal losses of bicarbonate or accumulation of acid? | 92 |
| Metabolic acidosis caused by abnormal bicarbonate losses | 92 |
| Metabolic acidosis resulting from accumulation of organic anion | 94 |
| Lactic acidosis | 94 |
| Pyruvate accumulation | 95 |
| PDH deficiency | 98 |
| PC deficiency | 99 |
| Multiple carboxylase deficiency | 99 |
| NADH accumulation | 100 |
| Ketoacidosis | 101 |
| Mitochondrial acetoacetyl-CoA thiolase deficiency (α-ketothiolase deficiency) | 102 |
| Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency | 103 |
| Organic aciduria | 104 |
| Methylmalonic acidemia (MMA) | 104 |
| 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency | 110 |
| Glutaric aciduria | 110 |
| Dicarboxylic aciduria | 112 |
| Ethylmalonic aciduria | 113 |
| D-Lactic acidosis | 113 |
| Adventitious organic aciduria | 114 |
| Suggested reading | 115 |
| 4 Hepatic syndrome | 116 |
| Jaundice | 116 |
| Unconjugated hyperbilirubinemia | 116 |
| Conjugated hyperbilirubinemia | 118 |
| Hepatomegaly | 118 |
| Hypoglycemia | 120 |
| Ways to increase glucose production | 120 |
| Ways to decrease peripheral glucose utilization | 122 |
| An approach to the differential diagnosis of hypoglycemia | 125 |
| Hepatocellular dysfunction | 133 |
| Investigation | 139 |
| Liver function tests | 139 |
| Fasting tests | 139 |
| Suggested reading | 141 |
| 5 Cardiac syndromes | 143 |
| Cardiomyopathy | 143 |
| Initial investigation of possible inherited metabolic cardiomyopathy | 148 |
| Glycogen storage disease, type II (GSD II or Pompe disease) | 149 |
| Primary systemic carnitine deficiency | 151 |
| Fabry disease | 151 |
| Mitochondrial cardiomyopathies | 152 |
| Arrhythmias | 153 |
| Coronary artery disease | 155 |
| Familial hypercholesterolemia | 155 |
| Suggested reading | 159 |
| 6 Storage syndrome and dysmorphism | 162 |
| General characteristics of the dysmorphism resulting from inborn errors of metabolism | 162 |
| What are the types of inherited metabolic diseases in which dysmorphism might be expected to be prominent? | 164 |
| Lysosomal disorders | 165 |
| Peroxisomal disorders | 178 |
| Mitochondrial disorders | 182 |
| Biosynthetic defects | 183 |
| What sort of metabolic studies are most likely to be diagnostically productive in the investigation of dysmorphism? | 195 |
| Suggested reading | 196 |
| 7 Acute metabolic illness in the newborn | 198 |
| Suspicion | 198 |
| Initial laboratory investigation | 200 |
| Five clinical ‘syndromes’ | 202 |
| Encephalopathy without metabolic acidosis | 203 |
| Maple syrup urine disease (MSUD) | 203 |
| Urea cycle enzyme defects (UCED) | 205 |
A Clinical Guide to Inherited Metabolic Diseases 3rd Edition PDF Free Download
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