Back close

Diagnosis of organic acidurias in children: Two years experience at a tertiary care centre

Publication Type : Journal Article

Thematic Areas : Medical Sciences

Publisher : Indian Journal of Clinical Biochemistry

Source : Indian Journal of Clinical Biochemistry, Volume 26, Number 4, p.347-353 (2011)

Url : http://www.scopus.com/inward/record.url?eid=2-s2.0-83655165373&partnerID=40&md5=3e1134717f2ff0d8be79035c8034f491

Keywords : Acer, aciduria, article, brain damage, child, childhood disease, controlled study, female, human, major clinical study, male, metabolic acidosis, methylmalonic aciduria, school child, tertiary health care

Campus : Kochi

School : School of Medicine

Department : Biochemistry

Year : 2011

Abstract : Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include methylmalonic aciduria, propionic aciduria, isovaleric aciduria and maple syrup urine disease (MSUD). They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present with acute symptoms early in life. 420 cases clinically suspected to have organic aciduria, with upper age limit of 12 years for a 2-year period (January 2007-December 2008) were enrolled into this study. Metabolic acidosis and neurological symptoms were the most common signs. Screening tests and thin layer chromatography were done for detection of organic acidurias. Identification and quantitation of organic acids in urine and quantification of amino acids in blood were done by high performance liquid chromatography. Out of 420 patients, 45 patients (10.7%) were found to have organic acidurias. 15 cases of methylmalonic aciduria, 16 cases of propionic aciduria, 13 cases of MSUD, and one case of isovaleric aciduria were diagnosed. Results demonstrate the importance of testing for organic acidurias. Since organic aciduria may cause irreversible brain damage if not treated, we recommend selective screening amongst severely ill children despite implied extra costs. © 2011 Association of Clinical Biochemists of India.

Cite this Research Publication : M. P. Narayanan, Kannan, V., Vinayan, K. P., and Dr. Damodaran Vasudevan, “Diagnosis of organic acidurias in children: Two years experience at a tertiary care centre”, Indian Journal of Clinical Biochemistry, vol. 26, pp. 347-353, 2011.

Admissions Apply Now