Atlas of inherited metabolic diseases. (2018)

• Record Type: Book
• Authors: Nyhan, William L, 1926-; Hoffman, Georg; Barshop, Bruce Allen
• Contents: PART 1: ORGANIC ACIDEMIAS. Introduction to the organic acidemias. Propionic academia. Methylmalonic academia. Cobalamin C, D, F, G diseases; methylmalonic aciduria and homocystinuria. The methylmalonic aciduria of deficiency of AcylCoA synthetase (ACSF3). Multiple carboxylase deficiency/holocarboxylase synthetase deficiency. Multiple carboxylase deficiency/biotinidase deficiency. Isovaleric academia. Glutaric aciduria (type I). 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria. D-2-hydroxyglutaric aciduria. L-2-hydroxyglutaric aciduria. 4-Hydroxybutyric aciduria. PART 2: DISORDERS OF AMINO ACID METABOLOISM. Alkaptonuria. Phenylketonuria. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin. Biogenic amines. Homocystinuria. Maple syrup urine disease (branched-chain oxoaciduria). Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency. Nonketotic hyperglycinemia. Serine deficiencies. PART 3: HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE. Introduction to hyperammonemia and disorders of the urea cycle. Ornithine transcarbamylase deficiency. Carbamylphosphate synthetase deficiency. Citrullinemia type I. Argininosuccinic aciduria. Argininemia. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome. Lysinuric protein intolerance. Glutamine synthetase deficiency. PART 4: DISORDERS OF FATTY ACID OXIDATION. Introduction to disorders of fatty acid oxidation. Carnitine transporter deficiency. Carnitine-ayclcarnitine translocase deficiency. Carnitine palmitoyl transferase I deficiency. Carnitine palmitoyl transferase II deficiency, lethal neonatal. Medium-chain acyl CoA dehydrogenase deficiency. Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Long chain L-3-hydroxyacl CoA dehydrogenase deficiency – (trifunctional protein) deficiency. Short-chain acyl CoA dehydrogenase (SCAD) deficiency. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria, type II ethylmalonic-adipic aciduria. 3-Hydroxy-3-methylglutarylCoA lyase deficiency. PART 5: THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE. Introduction to the lactic acidemias. Pyruvate carboxylase deficiency. Fructose-1, 6-diphosphatase deficiency. Deficiency of the pyruvate dehydrogenase complex. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS). Myoclonic epilepsy and ragged red fiber (MERRF) disease. Neurodegeneration, ataxia and retinitis pigmentosa (NARP). Kearns-Sayre syndrome. Pearson syndrome. The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency. PART 6: DISORDERS OF CARBOHYDRATE METABOLISM. Galactosemia. Glycogen storage disease: introduction. Glycogenosis type I – von Gierke disease. Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency. Glycogenosis type III/amylo-1, 6-glucosidase (debrancher) deficiency. PART 7: PEROXISOMAL DISORDERS. Adrenoleukodystrophy. Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis. PART 8: DISORDERS OF PURINE AND PYRIDINE METABOLISM. Introduction to the disorders of purine and pyrimidine deficiencies. Lesch-Nyhan disease and variants. Adenine phosphoribosyltransferase (APRT) deficiency. Phosphoribosylpyrophosphate synthetase and its abnormalities. Adenosine deaminase deficiency. Adenosine kinase deficiency. Purine nucleoside phosphorylase deficiency. Adenylosuccinate lyase deficiency. Santhinuria, xanthine oxidase deficiency. Orotic aciduria. Molybdenum cofactor deficiency. PART 9: MUCOPOLYSACCHARIDOSES. Introduction to mucopolysaccharidoses. Hurler disease/mucopolysaccharidosis type IH (MPSIH)/α-L-iduronidase deficiency. Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency. Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency. Sanfilippo disease/mucopolysaccharidosis type III. Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia. Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency. Sly disease/β-glucuronidase deficiency/mucopolysaccharidosis VII. PART 10: MUCOLIPIDOSIS. Mucolipidosis II and III/ (I-cell and pseudo-Hurler polydystrophy N-acetyl-glucosaminyl-l-phosphotransferase deficiency. PART 11: DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM. Familial hypercholesterolemia. Mevalonic aciduria. Lipoprotein lipase deficiency/type I hyperlipoproteinemia. PART 12: LIPID STORAGE DISORDERS. Fabry disease. Tay-Sachs disease/hexosaminidase A deficiency. Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency. Gaucher disease. Niemann-Pick disease. Niemann-Pick type C disease/cholesterol-processing abnormality. Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy. Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease. Fucosidosis. α-Mannosidosis (β-Mannosidosis). Galactosialidosis. Metachromatic leukodystrophy. Multiple sulfatase deficiency. PART 13: MISCELLANEOUS. Disorders of vitamin B6 metabolism. PMM2-CDG (Congenital disorders of glycosylation, type Ia). Ethylmalonic encephalopathy. Disorders of creatine metabolism. GLUT1 deficiency. Hypophosphatasia. NBAS/RALF deficiency. α1 -Antitrypsin deficiency.
• Edition: Fourth edition
• Publisher Details: Boca Raton : CRC Press
• Publication Date: 2018
• Extent: 1 online resource, illustrations (black and white, and colour)
• Subjects: 616.39; Metabolism -- Disorders -- Atlases
• Languages: English
• ISBNs: 9781138196605
• Related ISBNs: 9781138196629
• Notes: Note: Description based on CIP data; resource not viewed.
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