Christodoulou J, Kure S, Hayasaka K, Clarke J T
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
J Pediatr. 1993 Jul;123(1):100-2. doi: 10.1016/s0022-3476(05)81550-1.
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.
