Publication Type:

Journal Article

Source:

Indian Journal of Clinical Biochemistry, Volume 26, Number 4, p.319-325 (2011)

URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-83655201525&partnerID=40&md5=a41530b99303ebacf9114b15d0d8d414

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

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. © 2011 Association of Clinical Biochemists of India.

Notes:

cited By 9

Cite this Research Publication

K. Vaidyanathan, Vasudevan, D. M., and Narayanan, M. P., “Organic acidurias: An updated review”, Indian Journal of Clinical Biochemistry, vol. 26, pp. 319-325, 2011.