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. 2011 Oct;26(4):319-25.
doi: 10.1007/s12291-011-0134-2. Epub 2011 Apr 29.

Organic acidurias: an updated review

Kannan Vaidyanathan  1 , M P Narayanan, D M Vasudevan
Affiliations

Organic acidurias: an updated review

Kannan Vaidyanathan et al. Indian J Clin Biochem. 2011 Oct.

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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Figures

Fig. 1
Fig. 1
Flow chart for diagnosis of organic acidurias
See this image and copyright information in PMC

References

    1. Ozand PT, Gascon GG. Organic acidurias: a review. Part I. J Chil Neurol. 1991;6:196–219. doi: 10.1177/088307389100600302. - DOI - PubMed
    1. Chalmers RA, Lawson AM. Organic acids in man. Analytical chemistry, biochemistry and diagnosis of the organic acidurias. 1. London: Chapman and Hall; 1982. - PMC - PubMed
    1. Wajner M, Wannmacher CMD, Gaidzinski D, Dutra Filho CS. Detection of inborn errors of metabolism in patients of pediatric intensive care units of Porto Alegre, Brazil. Comparison between the prevalence of such disturbances in a selected and an unselected sample. Braz J Genet. 1986;9:331–340.
    1. Wajner M, Barschak AG, Luft AP, Pires R, Grillo E, Lohr A, et al. Organic aciduria: diagnosis in high risk Brazilian patients. J Pediatr 2001;77(5), 401–6. - PubMed
    1. Hoffmann GF. Selective screening for inborn errors of metabolism-past present and future. Eur J Pediatr. 1994;153(Suppl 1):S2–S8. doi: 10.1007/BF02138769. - DOI - PubMed

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