A Quick Guide to Metabolic Disease Testing Interpretation: Testing for Inborn Errors of Metabolism

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.

Includes pathway diagrams and representative compound scans of important diagnostic compoundsProvides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolismHighlights brief descriptions of the etiology and clinical presentation of each presented disorder

Section 1 Introduction 1. Introduction

Section 2 Organic acidurias 2. Disorder: Glutaric acidemia type 1 3. Disorder: Glutaric acidemia type 2 4. Disorder: 2-Hydroxyglutaric aciduria 5. Disorder: Isovaleric aciduria 6. Disorder: 2-Methylbutyrylglycinuria 7. Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency 8. Disorder: 3-Methyglutaconic aciduria 9. Disorder: Methylmalonic aciduria 10. Disorder: Propionic acidemia 11. Disorder: Succinic semialdehyde dehydrogenase deficiency

Section 3 Urea cycle defects 12. Disorder: Arginase deficiency 13. Disorder: Argininosuccinic acidemia 14. Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency 15. Disorder: Citrullinemia and citrin deficiency 16. Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 17. Disorder: Ornithine transcarbamylase deficiency

Section 4 Disorders of amino acid metabolism 18. Disorder: ß-Ketothiolase deficiency 19. Disorder: Lysinuric protein intolerance 20. Disorder: Maple syrup urine disease 21. Disorder: Glycine encephalopathy 22. Disorder: Phenylketonuria 23. Disorder: Tyrosinemia type 1 24. Disorder: Tyrosinemia types 2 and 3

Section 5 Fatty acid oxidation defects 25. Disorder: Carnitine-acylcarnitine translocase deficiency 26. Disorder: Carnitine palmitoyltransferase 1 deficiency 27. Disorder: Carnitine palmitoyltransferase 2 deficiency 28. Disorder: Carnitine transporter deficiency 29. Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 30. Disorder: Medium-chain acyl-CoA dehydrogenase deficiency 31. Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency 32. Disorder: Very long chain acyl CoA dehydrogenase deficiency

Section 6 Other metabolic disorders 33. Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency 34. Disorder: Canavan Disease 35. Disorder: Dihydropyrimidine dehydrogenase deficiency 36. Disorder: Glutathione synthetase deficiency 37. Disorder: Pyruvate dehydrogenase deficiency