Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nat Med
; 12(3): 307-9, 2006 Mar.
Article
en En
| MEDLINE
| ID: mdl-16491085
ABSTRACT
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5'-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Piridoxina
/
Convulsiones
/
Aldehído Deshidrogenasa
/
Mutación
Límite:
Animals
/
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
Nat Med
Asunto de la revista:
BIOLOGIA MOLECULAR
/
MEDICINA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Reino Unido