Atlas of Metabolic Diseases

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, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases.

For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring.



Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

* Fully updated to incorporate all new developments in the field, including coverage of disorders of creatine synthesis and congenital disorders of glycosylation; much expanded since the first edition
* Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management
* Helpful explanatory algorithms and decision trees to enhance clinical applicability
* New improved quality of illustrative material including biochemical pathways, other line diagrams and color half-tones



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