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A Quick Guide to Metabolic Disease Testing Interpretation
Testing for Inborn Errors of Metabolism
Accessible guide to assist in the interpretation of the chromatographs from individuals with commonly encountered inborn errors of metabolism
Patricia Jones (Author), Khushbu Patel (Author), Dinesh Rakheja (Author)
9780128169261, Elsevier Science
Paperback, published 4 August 2020
220 pages, 50 illustrations (35 in full color)
22.9 x 15.1 x 1.5 cm, 0.32 kg
"If this is your area of laboratory or clinical practice - two words: get it." --Doody
Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM.
Section 1 Introduction1. Introduction Section 2 Organic acidurias2. Disorder: Glutaric acidemia type 13. Disorder: Glutaric acidemia type 24. Disorder: 2-Hydroxyglutaric aciduria5. Disorder: Isovaleric aciduria6. Disorder: 2-Methylbutyrylglycinuria7. Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency8. Disorder: 3-Methyglutaconic aciduria9. Disorder: Methylmalonic aciduria10. Disorder: Propionic acidemia11. Disorder: Succinic semialdehyde dehydrogenase deficiency Section 3 Urea cycle defects12. Disorder: Arginase deficiency13. Disorder: Argininosuccinic acidemia14. Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency15. Disorder: Citrullinemia and citrin deficiency16. Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome17. Disorder: Ornithine transcarbamylase deficiency Section 4 Disorders of amino acid metabolism18. Disorder: ß-Ketothiolase deficiency19. Disorder: Lysinuric protein intolerance20. Disorder: Maple syrup urine disease21. Disorder: Glycine encephalopathy22. Disorder: Phenylketonuria23. Disorder: Tyrosinemia type 124. Disorder: Tyrosinemia types 2 and 3 Section 5 Fatty acid oxidation defects25. Disorder: Carnitine-acylcarnitine translocase deficiency26. Disorder: Carnitine palmitoyltransferase 1 deficiency27. Disorder: Carnitine palmitoyltransferase 2 deficiency28. Disorder: Carnitine transporter deficiency29. Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency30. Disorder: Medium-chain acyl-CoA dehydrogenase deficiency31. Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency32. Disorder: Very long chain acyl CoA dehydrogenase deficiency Section 6 Other metabolic disorders33. Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency34. Disorder: Canavan Disease35. Disorder: Dihydropyrimidine dehydrogenase deficiency36. Disorder: Glutathione synthetase deficiency37. Disorder: Pyruvate dehydrogenase deficiency
Subject Areas: Life sciences: general issues [PSA]
