Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre |
| |
Authors: | M P Narayanan Vaidyanathan Kannan K P Vinayan D M Vasudevan |
| |
Institution: | (1) Metabolic Disorders Laboratory, Department of Biochemistry, Amrita School of Medicine and Research centre, AIMS-Ponekkara (PO), Kochi, 682041, Kerala, India;(2) Division of Pediatric Neurology, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India; |
| |
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. |
| |
Keywords: | Inborn errors of metabolism Metabolic screening Organic acidemias Organic acids Organic acid disorders |
本文献已被 SpringerLink 等数据库收录! |
|