Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
Paediatr Int Child Health
; 33(2): 113-5, 2013 May.
Article
in En
| MEDLINE
| ID: mdl-23925287
ABSTRACT
Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l. An 8-year-old Indian girl presented with severe developmental delay and seizures and was found to have pyridoxine-dependent epilepsy owing to an antiquitin mutation. Genetic evaluation of the parents allowed antenatal diagnosis to be made during the next pregnancy.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Aldehyde Dehydrogenase
/
Epilepsy
/
Mutation
Type of study:
Prognostic_studies
Limits:
Child
/
Female
/
Humans
Language:
En
Journal:
Paediatr Int Child Health
Year:
2013
Document type:
Article
Affiliation country: