A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Ann Neurol
; 53(2): 273-7, 2003 Feb.
Article
en En
| MEDLINE
| ID: mdl-12557299
ABSTRACT
We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E3-binding protein deficiency in a newborn girl. She had a severe encephalopathy, and magnetic resonance imaging of the brain showed large subependymal cysts and no basal ganglia lesions. She died 35 days after birth. We detected a novel homozygous deletion (620delC) in the PDX1 gene, which encodes for the E3BP subunit of the pyruvate dehydrogenase complex.
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Base de datos:
MEDLINE
Asunto principal:
Acidosis Láctica
/
Eliminación de Gen
/
Piruvato Deshidrogenasa (Lipoamida)
/
Enfermedades del Recién Nacido
Idioma:
En
Revista:
Ann Neurol
Año:
2003
Tipo del documento:
Article