Table of Contents

Part 1: Organic Acidemias
Introduction
Propionic Acidemia
Methylmalonic Acidemia
Methylmalonic Acidemia and Homocystinuria
Multiple carboxylase deficiency due to Holocarboxylase Synthetase Deficiency
Multiple Carboxylase Deficiency/Biotinidase Deficiency
Isovaleric Acidemia
Glutaric Aciduria Type I
3-Methylcrotonyl CoA Carboxylase Deficiency
3-Methylglutaconic Aciduria
3-Hydroxyisobutyric Aciduria
Malonic Aciduria
D-2-Hydroxyglutaric Aciduria
L-2-Hydroxyglutaric Aciduria
2-Oxoadipic Aciduria
4-Hydroxybutyric Aciduria
Mitochondrial acetoacetyl-CoA thiolase (3 oxothiolase) Deficiency
Part 2: Disorders of Amino Acid Metabolism
Albinism
Alkaptonuria
Phenylketonuria (PKU)
Hyperphenylalaninemia and Defective Metabolism of Tetrahydrobiopterin
Homocystinuria
Homocystinuria due to n(5,10)-methylenetetrahydrofolate reductase
Maple Syrup Urine Disease
Oculocutaneous Tyrosinemia
Hepatorenal Tyrosinemia
Nonketotic Hyperglycinemia
Part 3: Hyperammonemia and Disorders of the Urea Cycle
Introduction
Ornithine Transcarbamylase Deficiency
Carbamyl phosphate Synthetase Deficiency
Citrullinemia
Argininosuccinic Acidemia
Argininemia
HHH Syndrome
Lysinuric Protein Intolerance
Part 4: Disorders of Fatty Acid Oxidation
Introduction
Carnitine Transporter Deficiency
Carnitine Translocase Deficiency
Carnitine Palmitoyl Transferase I Deficiency
MCAD Deficiency
VLCAD Deficiency
LCHAD Deficiency
SCAD Deficiency
SCHAD Deficiency
Multiple Acyl CoA Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaric CoA Lyase Deficiency
Part 5: The Lactic Acidemias and Mitochondrial Disease
Introduction
Pyruvate Carboxylase Deficiency
Fructose 1, 6-diphosphatase Deficiency
PDHC Deficiency
Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases
MELAS
MERRF
NARP
Kearns Sayre syndrome
Pearson syndrome
Mitochondrial DNA Depletion Syndromes
Part 6: Disorders of Carbohydrate Metabolism
Galactosemia
Glycogen storage disease: An Introduction
Glycogenosis Type I
Glycogenosis Type II
Glycogenosis Type III
Part 7: Peroxisomal Disorders
Adrenoleukodystrophy
Neonatal Adrenoleukodystrophy
Part 8: Disorders of Purine Metabolism
Lesch-Nyhan Disease and non-Lesch-Nyhan variants of HPRT
Adenine Phosphoribosyl-transferase Deficiency
PRPP Synthetase Abnormalities
Adenosine Deaminase Deficiency
Adenylsuccinate Lyase Deficiency
Part 9: Disorders of Transport and Mineral Metabolism
Cystinuria
Cystinosis
Hartnup Disease
Histidinuria
Menkes Disease
Wilson Disease
Part 10: Mucopolysaccharidoses
Introduction to Mucopolysaccharidosis
Hurler Disease
Scheie and Hurler-Scheie diseases
Hunter Disease
Sanfilippo Disease
Morquio Disease
Maroteaux-Lamy Disease
Sly disease
Part 11: Mucolipidoses
I Cell Disease, mucolipidoses II
Mucolipidosis III
Part 12: Disorders of Cholesterol and Neutral Lipid Metabolism
Familial Hypercholesterolemia
Mevalonic Aciduria
Lipoprotein Lipase Deficiency
Part 13: Lipid Storage Disorders
Fabry Disease
GM1 Gangliosidosis
Tay-Sachs Disease
Sandhoff Disease
GM2 Activator Deficiency
Gaucher Disease
Niemann-Pick Disease
Niemann-Pick Type C
Krabbe Disease
Wolman Disease
Fucosidosis
alpha-Mannosidosis
Galactosialidosis
Metachromatic Leukodystrophy
Multiple Sulfatase Deficiency
Part 14: Miscellaneous
Congenital Disorder of Glycosylation – Ia
Other forms of Congenital Disorders of Glycosylation
alpha-1 Antitrypsin Deficiency
Canavan Disease
Glutamyl-ribose-5-phosphate Storage Disease
Ethylmalonic encephalopathy
Disorders of Creatine Metabolism
Sanjad-Sakati Syndrome
Al-Aqeel Sewairi Syndrome

About the Author

William L. Nyhan MD PhD
Professor of Pediatrics, UCSD School of Medicine, La Jolla, California, USA

Bruce A. Barshop MD PhD
Professor of Pediatrics, UCSD School of Medicine, La Jolla, California, USA

Pinar T. Ozand MD PhD
Head, Section of Inborn Errors of Metabolism, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Reviews

This is a book which should be on all paediatric wards, neonatal units, and out-patient departments... it is an excellent resource for reference; a book to be leafed through when faced with a diagnostic dilemma. And once a diagnosis has been made, this book provides excellent management and treatment plans as guidance for dealing with often complicated and rare diseases. -- Archives of Disease in Childhood online 20060119