INBORN ERRORS OF AMINO ACID AND CARBOHYDRATE METABOLISM

Abstract

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 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. Setting: Department of Pathology, PGMI/ KEMC/ Mayo Hospital Lahore. Material and methods: 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. Method: Chemical screening tests along with one dimensional descending paper chromatography
and thin layer chromatography (TLC) were employed to detect metabolic errors. Results: In group I, one case of
alcaptonuria was detected In group I!, Three cases of a specific generalized aminoaciduria occurring in a single family
were detected. Conclusion: 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.