Nyham, W: Atlas of Metabolic Diseases

dehydrogenase) deficiency Multiple acyl CoA dehydrogenase deficiency/Glutaric aciduria type II/Ethylmalonic-adipic aciduria 3-Hydroxy-3-methylglutaryl CoA lyase deficiency 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 Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes Myoclonic epilepsy and ragged red fiber disease Neurodegeneration, ataxia and retinitis pigmentosa Kearns-Sayre syndrome Pearson syndrome Mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency Disorders of carbohydrate metabolism Galactosemia Glycogen storage diseases: introduction Glycogenosis type 1 - Von Gierke disease Glycogenosis type II/Pomple/lysosomal -glucosidase deficiency Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency Peroxisomal disorders Adrenoleukodystrophy Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis Disorders of purine metabolism Lesch-Nyhan disease and variants Adenine phosphoribosyl-transferase deficiency Phosphoribosylpyrophosphate synthetase and its abnormalities Adenosine deaminase deficiency Adenylsuccinate lyase deficiency Orotic aciduria Disorders of transport and mineral metabolism Cystinuria Cystinosis Hartnup disease Histiniduria Menkes disease Mucopolysaccharidoses Introduction to mucopolysaccharidoses Hurler disease/mucopolysaccharidosis type IH-L-iduronidase deficiency Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and HIS/a-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/AY-glucuronidase deficiency/mucopolysaccharidosis VII Mucolipidoses I-cell disease/mucolipidosis II Mucolipidosis III/pseudo-Hurler polydystrophy /N-acetyl-glucosaminyl-1-phosphotransferase deficiency Disorders of cholesterol and neutral lipid metabolism Familial hypercholesterolemia Mevalonic aciduria Lipoprotein lipase deficiency/type I hyperlipoproteinemia Lipid storage disorders Fabry disease GM1 gangliosidosis/AY-galactosidase deficiency Tay-Sachs disease/hexosaminidase A deficiency Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency GM2 activator deficiency/GM2 gangliosidosis - deficiency of the activator protein Gaucher disease Niemann-Pick disease Niemann-Pick type C disease/cholesterol-processing abnormality Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy Wolman disease/cholesteryl ester storage disease Fucosidosis a-Mannosidosis Galactosialidosis Metachromatic leukodystrophy Multiple sulfatase deficiency Miscellaneous Congenital disorder of glycosylation, type la Other forms of congenital disorders of glycosylation a1-Antitrypsin deficiency Canavan disease/aspartoacylase deficiency Ethylmalonic encephalopathy Disorders of creatine synthesis or transport