A Quick Guide to Metabolic Disease Testing Interpretation

Dr. Jones is the Clinical Director of the Chemistry and Metabolic Disease Lab at Children’s Medical Center of Dallas and a Professor of Pathology at UT Southwestern Medical Center. Her PhD is in Molecular Biology with a minor in Biochemistry. Her duties include instructing pathology residents and various fellows in aspects of clinical chemistry and metabolic disease testing, and acting as a clinical consultant at the Dallas County hospital (Parkland) and the university hospital system. Her research interests lie in the field of inborn errors of metabolism, especially disorders of fatty acid metabolism. Dr. Jones has been an active member of the American Association for Clinical Chemistry (AACC) since 1986, serving on numerous committees for that association. She is currently the AACC President-elect and will be AACC President in 2016. She is the Past-President of the National Academy of Clinical Biochemists (NACB) and American Association for Clinical Chemistry (AACC). Dr. Patel is an Assistant Professor and Associate Director of Clinical Chemistry, Children's Health at UT Southwestern. She received her PhD in Molecular Cell Biology from Washington University in St. Louis, MO. Dr. Rakheja did his medical schooling at All India Institute of Medical Sciences in New Delhi. He completed pathology residencies at Maulana Azad Medical College (Delhi University) and UT Southwestern Medical Center. He trained in gastrointestinal pathology and neuropathology as a senior resident (fellow equivalent) at GB Pant Hospital (Delhi University) and completed a pediatric pathology fellowship at UT Southwestern/Children’s Medical Center.Dr. Rakheja studies the genetics and metabolism of childhood cancer. He has specific interests in tumor tissue banking, establishing primary pediatric cancer cell lines, and developing laboratory assays for diagnostic, prognostic, and therapeutic targets in pediatric cancers.

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• Section 1 Introduction1. IntroductionSection 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 deficiencySection 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 deficiencySection 4 Disorders of amino acid metabolism18. Disorder: β-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 3Section 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 deficiencySection 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