Article
Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
Neurology - 12 Apr 2005
Dinopoulos A, Kure S, Chuck G, Sato K, Gilbert D L, Matsubara Y, Degrauw T
Abstract excerpt
Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.
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