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.
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收藏
页码：230 / 233
页数：4
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