Screening of Aminoacidurias in Children
Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 4
Abstract
Inborn errors of metabolism (IEM) are genetically determined biochemical disorders due to specific congenital defects in protein molecules. In infants and young children the inborn errors produce mental deficiency and serious ill health. Aminoacidurias being one of the common causes of preventable mental retardation, mass screening helps in early detection and early intervention to prevent disability and mortality. Thus the present study was undertaken to screen children below 5 yrs of age showing signs and symptoms of aminoacidurias. 604 children with such symptoms were screened by basic urine screening tests, of which three were found to be positive. The urine and plasma samples of these 3 children were subjected to thin layer chromatography (TLC) and confirmed by high performance liquid chromatography (HPLC). They were found to be suffering from phenylketonuria (PKU). Hence urine screening tests, TLC followed by HPLC are rapid and convenient methods for early diagnosis of aminoacidurias in children.
Authors and Affiliations
Dr. Helena Rajakumari. J.
Keywords
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