CiNii 図書 - 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.

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 aEURO" 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

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Atlas of metabolic diseases

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