伴有神经症状的遗传性乳清酸尿症杂合子。

Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.

作者信息

Imaeda M, Sumi S, Imaeda H, Suchi M, Kidouchi K, Togari H, Wada Y

机构信息

Department of Pediatrics, Nagoya City University Medical School, Japan.

出版信息

Tohoku J Exp Med. 1998 May;185(1):67-70. doi: 10.1620/tjem.185.67.

DOI:10.1620/tjem.185.67

PMID:9710947

Abstract

We report a family with hereditary orotic aciduria heterozygotes. A 3-year-old boy who had been diagnosed as having cerebral palsy and mental retardation presented himself with an increase in excretion of urinary orotic acid. Enzymatic studies revealed that the boy and his healthy mother were hereditary orotic aciduria heterozygote carriers. We can not prove that this pyrimidine disorder caused his neurological symptoms, but his pyrimidine nucleoside supply may have been insufficient in his neonatal period.

摘要

我们报告了一个患有遗传性乳清酸尿症杂合子的家族。一名3岁男孩，曾被诊断为患有脑瘫和智力发育迟缓，出现尿中乳清酸排泄增加的情况。酶学研究表明，该男孩及其健康的母亲是遗传性乳清酸尿症杂合子携带者。我们无法证明这种嘧啶紊乱导致了他的神经症状，但在他新生儿期，其嘧啶核苷供应可能不足。