Atlas of Inherited Metabolic Diseases.

Cover -- Half Title -- Title Page -- Copyright Page -- Contents -- Preface by William L. Nyhan -- Preface by Georg F. Hoffmann -- Contributors -- Part 1: Organic acidemias -- 1. Introduction to the organic acidemias -- 2. Propionic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 3. Methylmalonic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 4. Cobalamin C, D, F, G diseases -- methylmalonic aciduria and variable homocystinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 5. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 6. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 7. Multiple carboxylase deficiency/biotinidase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 8. Isovaleric acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 9. Glutaric aciduria (type I) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 10. 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 11. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 12. L-2-hydroxyglutaric aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment.

References -- 13. 4-Hydroxybutyric aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 2: Disorders of amino acid metabolism -- 14. Alkaptonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 15. Phenylketonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- Maternal PKU -- References -- 16. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- References -- 17. Biogenic amines -- Aromatic L-amino acid decarboxylase deficiency -- Introduction -- Clinical abnormalities -- Psychiatric disorders in carriers -- Genetics and pathogenesis -- Treatment -- Tyrosine hydroxylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- Dopamine transporter deficiency syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 18. Homocystinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 19. Maple syrup urine disease (branched-chain oxoaciduria) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 20. Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 21. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 22. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment.

References -- 23. Nonketotic hyperglycinemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 24. Serine deficiencies -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 3: Hyperammonemia and Disorders of the Urea Cycle -- 25. Introduction to hyperammonemia and disorders of the urea cycle -- Introduction -- Work up of the patients with hyperammonemia -- Treatment of hyperammonemia -- References -- 26. Ornithine transcarbamylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 27. Carbamylphosphate synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 28. Citrullinemia type I -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 29. Argininosuccinic aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 30. Argininemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 31. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 32. Lysinuric protein intolerance -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 33. Glutamine synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 4: Disorders of fatty acid oxidation -- 34. Introduction to disorders of fatty acid oxidation -- Introduction -- References -- 35. Carnitine transporter deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References.

36. Carnitine-acylcarnitine translocase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 37. Carnitine palmitoyl transferase I deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 38. Carnitine palmitoyl transferase II deficiency, lethal neonatal -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 39. Medium-chain acyl CoA dehydrogenase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 40. Very long-chain acyl-CoA dehydrogenase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 41. Long-chain L-3-hydroxyacyl-CoA dehydrogenase - (trifunctional protein) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 42. Short-chain acyl CoA dehydrogenase (SCAD) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 43. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 44. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency -- Introduction -- Clinical manifestations -- Genetics and pathogenesis -- Treatment -- References -- 45. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 46. 3-Hydroxy-3-methylglutarylCoA lyase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References.

Part 5: The lactic acidemias and mitochondrial disease -- 47. Introduction to lactic acidemias -- Introduction -- Work up of a patient with congenital lactic acidemia -- Clinical abnormalities -- Pathogenesis -- Treatment -- References -- 48. Pyruvate carboxylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 49. Fructose-1,6-diphosphatase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 50. Deficiency of the pyruvate dehydrogenase complex -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 51. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 52. Myoclonic epilepsy and ragged red fiber (MERRF) disease -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 53. Neurodegeneration, ataxia, and retinitis pigmentosa (NARP) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 54. Kearns-Sayre syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 55. Pearson syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 56. The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 6: Disorders of carbohydrate metabolism -- 57. Galactosemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 58. Glycogen storage diseases: introduction -- Introduction -- References.

59. Glycogenosis type I - von Gierke disease.

The fourth edition of this highly regarded book, authored by some of the foremost authorities in pediatric metabolic medicine, provides 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.

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Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.