Article
Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
Neurology - 12 Apr 2005
Dinopoulos A, Kure S, Chuck G, Sato K, Gilbert D L, Matsubara Y, Degrauw T
Abstract excerpt
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.
Topics
- Adult
- Aggression
- Animals
- Brain
- Brain Chemistry
- COS Cells
- Chlorocebus aethiops
- DNA Mutational Analysis
- Gene Expression Regulation, Enzymologic
- Gene Frequency
- Genetic Predisposition to Disease
- Genetic Testing
- Glycine Dehydrogenase (Decarboxylating)
- Humans