Organic acidurias: An updated review
Publication Type:Journal Article
Source:Indian Journal of Clinical Biochemistry, Volume 26, Number 4, p.319-325 (2011)
Keywords:Acer, aciduria, brain function, branched chain amino acid, cerebrospinal fluid, disease severity, disorders of carbohydrate metabolism, energy, environmental factor, gene mutation, glutaric aciduria, human, incidence, isovaleric aciduria, maple syrup urine disease, mental deficiency, metabolism, methylmalonic aciduria, nitrogen, paper chromatography, propionic aciduria, proton nuclear magnetic resonance, review, screening, tandem mass spectrometry
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. © 2011 Association of Clinical Biochemists of India.
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