Diagnosis of organic acidurias in children: Two years experience at a tertiary care centre
Publication Type:Journal Article
Source:Indian Journal of Clinical Biochemistry, Volume 26, Number 4, p.347-353 (2011)
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
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.
cited By 7
Cite this Research Publication
Related Research Publications
- Clinical outcome of major organic acidemias–A three years follow-up study
- Clinical outcome of major organic acidemias- A three years follow-up study
- NEUROMETABOLIC DISORDERS IN CHILDREN
- DIAGNOSIS OF NEUROMETABOLIC DISORDERS BY SIMPLE SCREENING TEST AND HPLC.
- Inborn Errors of Metabolism and Brain Involvement-5 Years Experience from a Tertiary Care Center in South India