FAMILIAL STUDY OF HUMAN ENZYME DEFECT ARGININOSUCCINIC ACIDURIA
FAMILIAL STUDY OF HUMAN ENZYME DEFECT ARGININOSUCCINIC ACIDURIA
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DOI：
10.1016/s0006-291x(64)80001-2
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发表时间：
1964-01-01
影响因子：
3.1
通讯作者：
THEVAOS, TG
中科院分区：
文献类型：
--
作者：
CORYELL, ME;HORTON, BF;THEVAOS, TG
Allen, Cusworth， Dent和Wilson（1958）首先在两个儿童中描述了人类酶缺陷，其中大量精氨酸琥珀酸（ASA）从尿液中排出。Westall（1960）确定该化合物是精氨酸琥珀酸，一种已知的尿素生成中间体。Levin， Mackay和Oberholzer（1960）研究了第三个有这种缺陷的孩子。这三个孩子在某些身体特征上相似，都患有各种身体残疾和智力迟钝。每人每天排泄约3克ASA。最近Carson and Neill（1962）在北爱尔兰又发现了2例，Van Pilsum and Halberg（1962）也提到了1例，总共报道了6例。精氨酸琥珀酸尿症患儿已在我院接受调查2年，表现为身心发育迟缓，营养不良，慢性疾病。这个孩子，现在4岁，在外观和临床细节上与之前研究者描述的3个孩子相似。完整的临床报告将在其他地方发表。
The human enzyme defect in which considerable amounts of argininosuccinic acid (ASA) are excreted in the urine was first described in two children by Allen, Cusworth, Dent and Wilson (1958). Westall (1960) determined that the compound was argininosuccinic acid, a known intermediate in urea formation. Levin, Mackay and Oberholzer (1960) studied a third child with the defect. All three children were similar in certain characteristic physical features and all suffered from various physical disabilities and mental retardation. Each excreted about 3 grams of ASA per day. Recently Carson and Neill (1962) found 2 additional cases in northern Ireland, and Van Pilsum and Halberg (1962) make mention of a case, to make a total of 6 reported.The child with argininosuccinic aciduria who has been under investigation here for the past 2 years, was retarded in physical and mental development and appeared malnourished and chronically ill. This child, now 4 years old, resembled in appearance and clinical detail the 3 children described by previous investigators. A full clinical report will be published elsewhere.