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

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%...

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Bibliographic Details
Published inNeurology Vol. 64; no. 7; p. 1255
Main Authors Dinopoulos, A, Kure, S, Chuck, G, Sato, K, Gilbert, D L, Matsubara, Y, Degrauw, T
Format Journal Article
LanguageEnglish
Published United States 12.04.2005
Subjects
Adult
Aggression - physiology
Animals
Brain - enzymology
Brain - physiopathology
Brain Chemistry - genetics
Cercopithecus aethiops
COS Cells
DNA Mutational Analysis
Gene Expression Regulation, Enzymologic - genetics
Gene Frequency
Genetic Predisposition to Disease - genetics
Genetic Testing
Glycine Dehydrogenase (Decarboxylating) - genetics
Humans
Hyperglycinemia, Nonketotic - enzymology
Hyperglycinemia, Nonketotic - genetics
Hyperglycinemia, Nonketotic - physiopathology
Intellectual Disability - enzymology
Intellectual Disability - genetics
Male
Muscle Hypotonia - enzymology
Muscle Hypotonia - genetics
Mutation, Missense - genetics
Pedigree
Personality Disorders - enzymology
Personality Disorders - genetics
Phenotype
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Summary: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.
ISSN:1526-632X
DOI:10.1212/01.wnl.0000156800.23776.40