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.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health