Quick Guide to Organic Acid 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. Quick Guide to Organic Acid 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 INDICE: 1. Introduction 12. Glutaric Acidemia Type 13. Glutaric Acidemia Type 24. Glutathione Synthetase De?ciency5. 2-Hydroxyglutaric Aciduria6. Isovaleric Aciduria7. Maple Syrup Urine Disease8. Medium-Chain Acyl-CoA Dehydrogenase De?ciency9. 2-Methylcrotonyl-CoA-Carboxylase De?ciency10. Methylmalonic Aciduria11. Ornithine Transcarbamylase De?ciency12. Propionic Acidemia13. Succinic Semialdehyde Dehydrogenase De?ciency14. Tyrosinemia Type 115. Miscellaneous Commonly Encountered Chromatographic Patterns16. Adipic Aciduria17. Allopurinol Therapy18. Dicarboxylic Aciduria19. Immature Liver/Hepatic Dysfunction20. Lactic Aciduria

• ISBN: 978-0-12-816926-1
• Editorial: Academic Press
• Encuadernacion: Rústica
• Páginas: 200
• Fecha Publicación: 01/07/2020
• Nº Volúmenes: 1
• Idioma: Inglés