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 third edition of this highly regarded book, autho

part |2 pages

PART 1 ORGANIC ACIDEMIAS

chapter 1|5 pages

Introduction

chapter 2|11 pages

Propionic acidemia

chapter 3|14 pages

Methylmalonic acidemia

chapter 7|7 pages

Isovaleric acidemia

chapter 8|10 pages

Glutaric aciduria (type I)

chapter 10|6 pages

D-2-Hydroxyglutaric aciduria

chapter 11|4 pages

L-2-Hydroxyglutaric aciduria

chapter 12|6 pages

4-Hydroxybutyric aciduria

part |2 pages

PART 2 DISORDERS OF AMINO ACID METABOLISM

chapter 14|7 pages

Alkaptonuria

chapter 15|11 pages

Phenylketonuria

chapter 17|8 pages

Biogenic amines

chapter 18|8 pages

Homocystinuria

chapter 22|9 pages

Nonketotic hyperglycinemia

part |2 pages

PART 3 HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE

chapter 24|8 pages

Ornithine transcarbamylase deficiency

chapter 25|5 pages

Carbamylphosphate synthetase deficiency

chapter 26|6 pages

Citrullinemia

chapter 27|7 pages

Argininosuccinic aciduria

chapter 28|6 pages

Argininemia

chapter 30|6 pages

Lysinuric protein intolerance

chapter 31|4 pages

Glutamine synthetase deficiency

part |2 pages

PART 4 DISORDERS OF FATTY ACID OXIDATION

chapter 33|7 pages

Carnitine transporter deficiency

part |2 pages

PART 5 THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE

chapter 46|10 pages

Introduction to the lactic acidemias

chapter 47|7 pages

Pyruvate carboxylase deficiency

chapter 48|5 pages

Fructose-1,6-diphosphatase deficiency

chapter 54|5 pages

Kearns-Sayre syndrome

chapter 55|6 pages

Pearson syndrome

part |2 pages

PART 6 DISORDERS OF CARBOHYDRATE METABOLISM

part |2 pages

PART 7 PEROXISOMAL DISORDERS

chapter 62|10 pages

Adrenoleukodystrophy

part |2 pages

PART 8 DISORDERS OF PURINE METABOLISM

chapter 64|15 pages

Lesch-Nyhan disease and variants

chapter 67|7 pages

Adenosine deaminase deficiency

chapter 68|4 pages

Adenylosuccinate lyase deficiency

chapter 69|5 pages

Orotic aciduria

part |2 pages

PART 9 DISORDERS OF TRANSPORT AND MINERAL METABOLISM

chapter 70|7 pages

Cystinuria

chapter 71|8 pages

Cystinosis

chapter 72|4 pages

Hartnup disease

chapter 73|2 pages

Histidinuria

chapter 74|7 pages

Menkes disease

part |2 pages

PART 10 MUCOPOLYSACCHARIDOSES

part |2 pages

PART 11 MUCOLIPIDOSES

part |2 pages

PART 12 DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM

chapter 85|11 pages

Familial hypercholesterolemia

chapter 86|6 pages

Mevalonic aciduria

part |2 pages

PART 13 LIPID STORAGE DISORDERS

chapter 88|7 pages

Fabry disease

chapter 89|12 pages

gangliosidosis/b-galactosidase deficiency

chapter 93|10 pages

Gaucher disease

chapter 94|10 pages

Niemann-Pick disease

chapter 98|5 pages

Fucosidosis

chapter 99|7 pages

a-Mannosidosis

chapter 100|8 pages

Galactosialidosis

chapter 101|9 pages

Metachromatic leukodystrophy

chapter 102|10 pages

Multiple sulfatase deficiency

part |2 pages

PART 14 MISCELLANEOUS

chapter 105|8 pages

a1-Antitrypsin deficiency

chapter 106|8 pages

Canavan disease/aspartoacylase deficiency

chapter 107|8 pages

Ethylmalonic encephalopathy

chapter 108|6 pages

Disorders of creatine synthesis or transport