Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
Ann Neurol
; 58(4): 626-30, 2005 Oct.
Article
en En
| MEDLINE
| ID: mdl-16037974
ABSTRACT
D-2-hydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the D-2-hydroxyglutarate dehydrogenase gene as the cause of the severe phenotype of D-2-hydroxyglutaric aciduria in two patients. Here, we report two novel pathogenic mutations in this gene in one patient with a mild presentation and two asymptomatic siblings with D-2-hydroxyglutaric aciduria from two unrelated consanguineous Palestinian families a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp). Overexpression of this mutant protein showed marked reduction of the enzyme activity.
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Banco de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Oxidorreductasas de Alcohol
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Mutación
Límite:
Female
/
Humans
/
Male
Idioma:
En
Año:
2005
Tipo del documento:
Article