INBORN ERRORS OF AMINO ACID AND CARBOHYDRATE METABOLISM

Objectives: 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 Carbohydratemetabolism. Secondly, a group of cases of proved mental deficiency were screened to find out whether the inbornerrors of Amino Acid and Carbohydrate metabolism are a significant contributory factor to the mental deficiency inPakistan. Setting: Department of Pathology, PGMI/ KEMC/ Mayo Hospital Lahore. Material and methods: In thisstudy, two groups of subjects were investigated systematically to detect inborn errors of amino acid and carbohydratemetabolism with particular reference to Alcaptonuria, Phenylketonuria, Galactosemia, FruSosuria and pentosuria. Ingroup I - 2000 children, under 2 years of age, mostly newborns, were randomly selected for this study from Pediatricsdepartment of various hospitals of Lahore. Group II - Includes 30 cases of mental deficiency of various ages referredby the psychiatrists or pediatricians for verifying whether any inborn error of Amino Acid or Carbohydrates metabolismis present or not. Method: Chemical screening tests along with one dimensional descending paper chromatographyand thin layer chromatography (TLC) were employed to detect metabolic errors. Results: In group I, one case ofalcaptonuria was detected In group I!, Three cases of a specific generalized aminoaciduria occurring in a single familywere detected. Conclusion: This study indicates that inborn errors of metabolism also exist in Pakistan. It has alsosorted 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 beenstressed and the need of a national screening programme highlighted.