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Inborn errors of amino acid metabolism in North India
Author(s) -
Kaur Manjeet,
Das Prasad Ganesh,
Verma Ishwar Chander
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711623
Subject(s) - maple syrup urine disease , homocystinuria , cystinuria , urine , amino acid metabolism , amino acid , inborn error of metabolism , medicine , metabolism , biology , endocrinology , biochemistry , methionine , leucine , cystine , cysteine , enzyme
Summary 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.