Article
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
Paediatrics and international child health - 1 May 2013
Jagadeesh Sujatha, Suresh Beena, Murugan V, Suresh S, Salomans G S, Struys E A, Jacobs C
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.