Inborn errors of amino acid and carbohydrate metabolism

ABSTRACT

This study was conducted with two objects in mind. Firstly, to screen children who were under two years of age for detection of inborn errors of Amino Acid and Carbohydrate metabolism. Secondly, a group of cases of proved mental deficiency were screened to find out whether the inborn errors of Amino Acid and Carbohydrate metabolism are a significant contributory factor to the mental deficiency in Pakistan. Department of Pathology, PGMI/ KEMC/ Mayo Hospital Lahore. In this study, two groups of subjects were investigated systematically to detect inborn errors of amino acid and carbohydrate metabolism with particular reference to Alcaptonuria, Phenylketonuria, Galactosemia, FruSosuria and pentosuria. In group I - 2000 children, under 2 years of age, mostly newborns, were randomly selected for this study from Pediatrics department of various hospitals of Lahore. Group II - Includes 30 cases of mental deficiency of various ages referred by the psychiatrists or pediatricians for verifying whether any inborn error of Amino Acid or Carbohydrates metabolism is present or not. Chemical screening tests along with one dimensional descending paper chromatography and thin layer chromatography [TLC] were employed to detect metabolic errors. In group I, one case of alcaptonuria was detected In group II, Three cases of a specific generalized aminoaciduria occurring in a single family were detected. This study indicates that inborn errors of metabolism also exist in Pakistan. It has also sorted out a reliable scheme of screening and detection of these disorders suited to our socio-economic.environment. The importance of early suspicion of these disorders and a timely diagnosis during preventable stage has been stressed and the need of a national screening programme highlighted