Publication

Abstract : Background Neurometabolic disorders are transmitted as autosomal recessive traits. The most prevalent symptoms were delayed development, mental retardation,lethargy, seizures, poor feeding, and failure to thrive.Positive family history and consanguinity are important predisposing factors

Methodology

570 children (upper age limit 12 years) having symptoms suggestive of Neurometabolic Disorders were selected from Amrita Institute of Medical Sciences and Research Centre during January 2008 to Sept ember 2009. Manual screening tests and TLC were used to detect the presence of abnormal metabolites in urine. HPLC was done for amino acids and organic acids using standard protocols. CT/MRI were used to evaluate brain abnormalities.strong>Results Out of the 570 patients screened, 48 cases were positive.15 cases of Methylmalonic aciduria, and in 16 cases of propionic aciduria, 12 cases of Maple syrup urine disease, 2 cases of alkaptonuria, 2 cases of Nonke
d mental retardation(N=12). 15 patients expired during the study. Brain abnormalities were detected in 11 patients.Conclusion Methylmalonic aciduria, Propionic aciduria and maple syrup urine disease accounted for 90% of neurometabolic disorders detected. Prompt diagnosis allowed specific treatment in majority of these patients with rapid improvement.