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Neurology. 2005 Apr 12;64(7):1255-7.

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.

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Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.


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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