Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
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.
Department of Genetics, Mediscan, Chennai, India.
Sujatha
S
Jagadeesh
Beena
B
Suresh
V
V
Murugan
S
S
Suresh
G S
GS
Salomans
E A
EA
Struys
C
C
Jacobs
D000444:Aldehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation
C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase