ABSTRACT
The aminoacidurias are among the major inborn errors of metabolism. Awareness for early detection of patients of aminoacidurias is increasing with the advancement in the treatment, genetic counseling and ante-natal diagnostic procedures. Incidence of aminoacidurias is different in different parts of the world. A study was planned to determine the prevalence of the aminoacidurias in northern areas of Pakistan. A total of 2089 children [11 56 males and 933 females], were subjected to metabolic screening which included Ferric Chloride, Cyanide nitroprusside, 2, 4, Dinitrophenylhydrazine and silver nitrate tests on the urine samples. Two dimensional thin layer chromatography was performed on positive urine specimen to confirm the diagnosis. The pattern of amino acid excretion in healthy children is almost similar to already reported data from other countries except that threonine and tyrosine were not detected in older children i.e. beyond 4 years of age. Out of 2089 subjects, 19 cases of aminoacidurias were detected, comprising of 11 [0.5%] cases of alkaptonuria, 3 [0.14%] of Cystinuria, 3 [0.14%] of Phenylketonuria and 1 case each of histidinemia and tyrosinemia were found. Alkaptonuria is the commonest disorder detected in our study. Screening at early age should be mandatory