n 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 fourth edition of this highly regarded book, authored by some of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Organic acidemias. Introduction. Propionic academia. Methylmalonic academia. Methylmalonic aciduria and homocystinuria (cobalamin C and D disease). Methylmalonic aciduria of ACSF3 deficiency (acylCoA synthetase). Multiple carboxylase deficiency/holocarboxylase synthetase deficiency. Multiple carboxylase deficiency/biotinidase deficiency. Isovaleric academia. Glutaric aciduria (type I). 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonylglycinuria. D-2-hydroxyglutaric aciduria. L-2-Hydroxyglutaric aciduria. 4-Hydroxybutyric aciduria. Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency. Disorders of amino acid metabolism. Alkaptonuria. Phenylketonuria. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin. Biogenic amines. Homocystinuria. Maple syrup urine disease (branched-chain oxoaciduria). Branched chain keto acid dehydrogenase deficiency. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency. Nonketotic hyperglycinemia. Serine deficiencies. Hyperammonemia and disorders of the urea cycle. Hyperammonemia and disorders of the urea cycle. Ornithine transcarbamylase deficiency. Carbamyl phosphate synthetase deficiency. Citrullinemia. Argininosuccinic aciduria. Argininemia. Hyperornithinemia, Hyperammonemia, Homocitrullinuria (HHH) syndrome. Lysinuric protein intolerance. Glutamine synthetase deficiency. Disorders of fatty acid oxidation. Introduction to disorders of fatty acid oxidation. Carnitine transporter deficiency. Carnitine translocase deficiency. Carnitine palmitoyl transferase (CPT) I deficiency. Carnitine palmitoyl transferase (CPT) II deficiency, lethal. Carnitine palmitoyl transferase (CPT) II deficiency, late onset. Medium chain acyl CoA dehydrogenase deficiency. Very long-chain acyl CoA dehydrogenase (VLCAD) deficiency. Long chain L-3-hydroxyacl CoA dehydrogenase (LCHAD) deficiency – trifunctional protein deficiency. Short-chain acyl CoA dehydrogenase (SCAD) deficiency. Short-chain 3-hydroxyacyl CoA dehydrogenase (SCHAD) deficiency. Short/Branched chain acyl CoA dehydrogenase (SBCAD) deficiency. Multiple acyl CoA dehydrogenase deficiency (MADD)/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 (PDHC). 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. 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. Glycogenosis type Ix/Amylo-1,6-glucosidase (debrancher) deficiency. Peroxisomal disorders. Adrenoleukodystrophy. Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis. Disorders of purine and pyrimidine metabolism. Introduction to the disorders of purine and pyrimidine deficiencies. Lesch-Nyhan disease and the non-Lesch-Nyhan variants of HPRT. Adenine phosphoribosyl-transferase (APRT) deficiency. Phosphoribosylpyrophosphate (PRPP) synthetase and its abnormalities. Adenosine deaminase deficiency. Purine nucleoside phosphorylase deficiency. Adenylosuccinate lyase deficiency. Orotic aciduria. Disorders of transport and mineral metabolism. Cystinuria. Cystinosis. Hartnup disease. Menkes disease. Mucopolysaccharidoses. Introduction to mucopolysaccharidoses. Hurler disease/mucopolysaccharidosis type IH (MPSIH)/a-L-iduronidase deficiency. Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency. Hunter disease/mucopolysaccharidosis type II (MPSII)/iduronate sulfatase deficiency. Sanfilippo disease/mucopolysaccharidosis type III (MPS III). Morquio syndrome/mucopolysaccharidosis type IV (MPS IV)/keratan sulfaturia. Maroteaux-Lamy disease/mucopolysaccharidosis VI (MPS VI)/N-acetylgalactosamine-4-sulfatase deficiency. Sly disease/β-glucuronidase deficiency/mucopolysaccharidosis VII (MPS VII). Mucolipidoses. I-cell disease/mucolipidosis II. Mucolipidosis III/pseudo-Hurler polydystrophy/N-acetyl-glucosaminyl-l-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/β-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/cholesterylester storage disease. Fucosidosis. α-Mannosidosis. Galactosialidosis. Metachromatic leukodystrophy. Multiple sulfatase deficiency. Miscellaneous. Antiquitin deficiency. Congenital disorder of glycosylation, type la. Other forms of congenital disorders of glycosylation. α1-Antitrypsin deficiency. Canavan disease/aspartoacylase deficiency. Ethylmalonic encephalopathy. Disorders of creatine metabolism. Molybdenum cofactor deficiency. GLUT 1 deficiency. Hypophosphatasia. PNPO pyridoxal phosphatase. Appendix. Index of disorders. Index of signs and symptoms.