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NEUROLOGY 2005;64:1255-1257
© 2005 American Academy of Neurology
Brief Communications

Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults

A. Dinopoulos, MD, S. Kure, MD, G. Chuck, BS, K. Sato, MD, D. L. Gilbert, MD, MS, Y. Matsubara, MD and T. Degrauw, MD, PhD

From the Division of Neurology (Drs. Dinopoulos, Gilbert, Degrauw, and G. Chuck), Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; Department of Medical Genetics (Drs. Kure, Sato, and Matsubara), Tohoku University School of Medicine, Japan.

Address correspondence and reprint requests to Dr. Argirios Dinopoulos, Cincinnati Children’s Hospital Medical Center, Division of Neurology, 3333 Burnet Avenue Cincinnati, OH 45229-3039; e-mail: argidino{at}yahoo.com

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.

See Commentary, page 1105

Received October 20, 2004. Accepted in final form December 27, 2004.


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