Organic Acidurias: An Updated Review |
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| Authors: | Kannan Vaidyanathan M. P. Narayanan D. M. Vasudevan |
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| Affiliation: | (1) Department of Biochemistry, Metabolic Disorders Division, Amrita Institute of Medical Science, AIMS Ponekkara PO, Kochi, Kerala, 682 041, India |
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| Abstract: | Organic acidurias are an important class of inherited metabolic disorders arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. This review summarizes the current knowledge about the important organic acidurias in the Indian population. Specifically, diagnosis and principles of treatment of organic acidurias are covered. The salient features of common organic acidurias as well as their prevalence in various parts of the world are reviewed in some detail. |
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| Keywords: | Organic acidurias Maple syrup urine disease Methylmalonic aciduria Propionic aciduria Isovaleric aciduria Tandem mass spectrometry |
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