1993•Journal of Inherited Metabolic DiseaseRequires access

Inborn errors of amino acid metabolism in North India

Manjeet Kaur, Ganesh Das Prasad, Ishwar C. Verma

Abstract

We screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin-layer chromatography of urine/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic hyperglycinaemia. Ornithinaemia was detected in two cases (0.08%), and phenylketonuria and cystinuria in two cases each (0.08%). Generalized hyperaminoacidurias were found in 90 (3.52%) subjects. The frequency pattern of the various amino acid disorders in North India was found to be remarkably different from that observed in the West.

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Key concepts: Maple syrup urine disease, Homocystinuria, Cystinuria, Urine, Amino acid metabolism, Amino acid, Inborn error of metabolism, Medicine