Atlas of Inherited Metabolic Diseases 3E (3rd New edition)

Atlas of Inherited Metabolic Diseases 3E (3rd New edition)

By: Aida I. Al-Aqeel (author), Bruce A. Barshop (author), William L. Nyhan (author), Georg F. Hoffman (author)Mixed Media

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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 third 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. The 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.

About Author

William L Nyhan MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA; Bruce A Barshop MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA; Aida I Al-Aqeel MD, DCH, FRCP, FACMG, Consultant and Head Pediatrics, Medical Genetics and Consultant Endocrinology, Riyadh Military Hospital, Riyadh, Saudi Arabia


Organic acidemias Introduction Propionic acidemia Methylmalonic acidemia Methylmalonic aciduria and homocystinuria (cobalamin C and C disease) Multiple carboxylase deficiency/holocarboxylase synthetase deficiency Multiple carboxylase deficiency/biotinidase deficiency Isovaleric acidemia Glutaric aciduria (type I) 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria 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 Hyphenylalaninemia and defective metabolism of tetrahydrobiopterin Biogenetic amines Homocystinuria Maple syrup urine disease (branched-chain oxoaciduria) Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency Nonketotic hyperglycinemia Hyperammonemia and disorders of the urea cycle Introduction to hyperammonemia and disorders of the urea cycle Ornithine transcarbamylase deficiency Carbamyl phosphate synthetase deficiency Citrullinemia Argininosuccinic aciduria Argininemia Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome Lysinuric protein intolerance Glutamine synthetase deficiency Disorders of fatty acid oxidation Introduction to disorders of fatty acid oxidation Carnitine transporter deficiency Carnitine: acylcarnitine translocase deficiency Carnitine palmitoyl transferase I deficiency Carnitine palmitoyl transferase II deficiency, lethal neonatal Carnitine palmitoyl transferase II deficiency, late onset Medium chain acyl CoA dehydrogenase deficiency Very long-chain acyl CoA dehydrogenase deficiency Long chain L-3-hydroxyacyl CoA dehydrogenase - (trifunctional protein deficiency) Short-chain acyl CoA dehydrogenase deficiency 3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) 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-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

Product Details

  • ISBN13: 9781444112252
  • Format: Mixed Media
  • Number Of Pages: 888
  • ID: 9781444112252
  • weight: 2654
  • ISBN10: 1444112252
  • edition: 3rd New edition

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