Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.
case_report · Level V
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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.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- Glycine
- Lymphocytes