ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy

Abstract

Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha-aminoadipic semialdehyde (a-AASA) concentration and mutational analysis of the ALDH7A1 gene that encodes antiquitin.

Keywords

• alpha-aminoadipic semialdehyde
• ventriculomegaly
• diabetes insipidus