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Indian J Clin Biochem. 2011 Oct;26(4):319-25. Epub 2011 Apr 29.

Organic acidurias: an updated review.

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1
Department of Biochemistry, Metabolic Disorders Division, Amrita Institute of Medical Science, AIMS Ponekkara PO, Kochi, Kerala 682 041 India.

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.

KEYWORDS:

Isovaleric aciduria; Maple syrup urine disease; Methylmalonic aciduria; Organic acidurias; Propionic aciduria; Tandem mass spectrometry

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