A Clinical Guide to Inherited Metabolic Diseases 3rd Edition PDF Free Download [Direct Link]

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A Clinical Guide to Inherited Metabolic Diseases 3rd Edition PDF

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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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