Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.
作者信息
Christodoulou J, Kure S, Hayasaka K, Clarke J T
机构信息
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
J Pediatr. 1993 Jul;123(1):100-2. doi: 10.1016/s0022-3476(05)81550-1.
PMID:8320601
Abstract
A 13-year-old girl with early-onset, mild, slowly progressive mental retardation caused by nonketotic hyperglycinemia is described. The plasma and cerebrospinal fluid glycine concentrations were elevated, but the cerebrospinal fluid/plasma glycine ratio was only mildly elevated. The diagnosis was confirmed by demonstration of a defect in the activity of the glycine cleavage system in cultured lymphoblasts.
摘要
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