Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts

John Christodoulou, Shigeo Kure, Kiyoshi Hayasaka, Joe T.R. Clarke

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)

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 midly elevated. The diagnosis was confirmed by demonstration of a detect in the activity of the glycine cleavage system in cultured lymphoblasts.

Original languageEnglish
Pages (from-to)100-102
Number of pages3
JournalThe Journal of Pediatrics
Volume123
Issue number1
DOIs
Publication statusPublished - 1993 Jul

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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