ABSTRACT

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth

part |2 pages

Part 1 Organic acidemias

chapter 1|5 pages

Introduction

chapter 2|10 pages

Propionic acidemia

chapter 3|12 pages

Methylmalonic acidemia

chapter 7|6 pages

Isovaleric acidemia

chapter 8|9 pages

Glutaric aciduria (type I)

chapter 10|8 pages

3-Methylglutaconic aciduria

chapter 11|5 pages

3-Hydroxyisobutyric aciduria

chapter 12|4 pages

Malonic aciduria

chapter 13|4 pages

D-2-Hydroxyglutaric aciduria

chapter 14|3 pages

L-2-Hydroxyglutaric aciduria

chapter 15|3 pages

2-Oxoadipic aciduria

chapter 16|5 pages

4-Hydroxybutyric aciduria

part |2 pages

Part 2 Disorders of amino acid metabolism

chapter 18|10 pages

Albinism

chapter 19|6 pages

Alkaptonuria

chapter 20|9 pages

Phenylketonuria

chapter 22|7 pages

Homocystinuria

chapter 27|8 pages

Nonketotic hyperglycinemia

part |2 pages

Part 3 Hyperammonemia and disorders of the urea cycle

chapter 29|7 pages

Ornithine transcarbamylase deficiency

chapter 30|4 pages

Carbamyl phosphate synthetase deficiency

chapter 31|6 pages

Citrullinemia

chapter 32|6 pages

Argininosuccinic aciduria

chapter 33|6 pages

Argininemia

chapter 35|6 pages

Lysinuric protein intolerance

part |2 pages

Part 4 Disorders of fatty acid oxidation

chapter 37|6 pages

Carnitine transporter deficiency

chapter 38|4 pages

Carnitine translocase deficiency

part |2 pages

Part 5 The lactic acidemias and mitochondrial disease

chapter 47|9 pages

Introduction to the lactic acidemias

chapter 48|6 pages

Pyruvate carboxylase deficiency

chapter 49|5 pages

Fructose-1,6-diphosphatase deficiency

chapter 55|5 pages

Kearns-Sayre syndrome

chapter 56|5 pages

Pearson syndrome

part |2 pages

Part 6 Disorders of carbohydrate metabolism

part |2 pages

Part 7 Peroxisomal disorders

chapter 63|8 pages

Adrenoleukodystrophy

part |2 pages

Part 8 Disorders of purine metabolism

part |2 pages

Part 9 Disorders of transport and mineral metabolism

chapter 70|7 pages

Cystinuria

chapter 71|7 pages

Cystinosis

chapter 72|3 pages

Hartnup disease

chapter 73|2 pages

Histidinuria

chapter 74|7 pages

Menkes disease

chapter 75|8 pages

Wilson disease

part |2 pages

Part 10 Mucopolysaccharidoses

chapter 76|3 pages

Introduction to mucopolysaccharidoses

part |2 pages

Part 11 Mucolipidoses

part |2 pages

Part 12 Disorders of cholesterol and neutral lipid metabolism

chapter 86|8 pages

Familial hypercholesterolemia

chapter 87|5 pages

Mevalonic aciduria

part |2 pages

Part 13 Lipid storage disorders

chapter 89|6 pages

Fabry disease

chapter 90|10 pages

GM1 gangliosidosis/-galactosidase deficiency

chapter 94|9 pages

Gaucher disease

chapter 95|9 pages

Niemann-Pick disease

chapter 99|4 pages

Fucosidosis

chapter 100|6 pages

α-Mannosidosis

chapter 101|7 pages

Galactosialidosis

chapter 102|7 pages

Metachromatic leukodystrophy

chapter 103|9 pages

Multiple sulfatase deficiency

part |2 pages

Part 14 Miscellaneous