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

Arigirios Dinopoulos; S. Kure; G. Chuck; K. Sato; D. L. Gilbert; Y. Matsubara; T. Degrauw

doi:10.1212/01.WNL.0000156800.23776.40

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

Arigirios Dinopoulos, S. Kure, G. Chuck, K. Sato, D. L. Gilbert, Y. Matsubara, T. Degrauw

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

27 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1255-1257
Number of pages	3
Journal	Neurology
Volume	64
Issue number	7
DOIs	https://doi.org/10.1212/01.WNL.0000156800.23776.40
Publication status	Published - 2005 Apr 12

ASJC Scopus subject areas

Clinical Neurology

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AU - Dinopoulos, Arigirios

AU - Kure, S.

AU - Chuck, G.

AU - Sato, K.

AU - Gilbert, D. L.

AU - Matsubara, Y.

AU - Degrauw, T.

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AB - 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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