Neurology, 2005-04, Vol.64 (7), p.1255-1257
2005
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Details
- Autor(en) / Beteiligte
- Titel
- Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults
- Ist Teil von
- Neurology, 2005-04, Vol.64 (7), p.1255-1257
- Ort / Verlag
- United States
- Erscheinungsjahr
- 2005
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-3878eISSN: 1526-632XDOI: 10.1212/01.wnl.0000156800.23776.40Titel-ID: cdi_pubmed_primary_15824356
- Format
- –
- Schlagworte
- 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