Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.

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.

• Authors: Sujatha Jagadeesh, Beena Suresh, V Murugan, S Suresh, G S Salomans, E A Struys, C Jacobs
• Journal: Paediatrics and international child health (Paediatr Int Child Health) Vol. 33 Issue 2 Pg. 113-5 (May 2013) ISSN: 2046-9055 [Electronic] England
• PMID: 23925287 (Publication Type: Case Reports, Journal Article)

Chemical References

• ALDH7A1 protein, human
• Aldehyde Dehydrogenase

Topics

• Aldehyde Dehydrogenase (deficiency, genetics)
• Child
• Epilepsy (diagnosis, genetics)
• Female
• Humans
• Mutation