INBORN-ERRORS OF AMINO-ACID-METABOLISM IN NORTH-INDIA

被引：16

作者：

KAUR, M ^{[1
]}

DAS, GP ^{[1
]}

VERMA, IC ^{[1
]}

机构：

[1] ALL INDIA INST MED SCI,DEPT PAEDIAT,GENET UNIT,NEW DELHI,INDIA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 02期

关键词：

D O I：

10.1007/BF00711623

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. Omithinaemia 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.

引用

页码：230 / 233

页数：4

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