Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.
Mol Genet Metab
; 103(2): 193-6, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-21411353
ABSTRACT
Nonketotic hyperglycinemia (NKH) is an inborn error of the glycine metabolism. A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.605C>T; p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. This is the first report of late-onset NKH with a confirmed underlying genetic defect. NKH should be in the differential diagnosis of intermittent choreoathetosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Mutação de Sentido Incorreto
/
Hiperglicinemia não Cetótica
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Glicina Desidrogenase (Descarboxilante)
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Homozigoto
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Canadá