L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.
J Med Genet
; 44(5): 334-40, 2007 May.
Article
en En
| MEDLINE
| ID: mdl-17475916
ABSTRACT
l-2-hydroxyglutaric aciduria (l-2-HGA) is a neurometabolic disorder that produces a variety of clinical neurological deficits, including psychomotor retardation, seizures and ataxia. The biochemical hallmark of l-2-HGA is the accumulation of l-2-hydroxyglutaric acid (l-2-HG) in cerebrospinal fluid, plasma and urine. Mutations within the gene L2HGDH (Entrez Gene ID 79944) on chromosome 14q22 encoding L-2-hydroxyglutaric acid dehydrogenase have recently been shown to cause l-2-HGA in humans. Using a candidate gene approach in an outbred pet dog population segregating l-2-HGA, the causal molecular defect was identified in the canine homologue of L2HGDH and characterised. DNA sequencing and pedigree analysis indicate a common founder effect in the canine model. The canine model shares many of the clinical and MRI features of the disease in humans and represents a valuable resource as a spontaneous model of l-2-HGA.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de los Perros
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Glutaratos
Tipo de estudio:
Diagnostic_studies
Límite:
Animals
Idioma:
En
Año:
2007
Tipo del documento:
Article