ALDH7A1 | definition of ALDH7A1 by Medical dictionary
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ALDH7A1 A gene on chromosome 5q31 that encodes an aldehyde dehydrogenase involved in lysine catabolism in the mitochondrial matrix.
ALDH7A1 mutation are associated with pyridoxine-dependent epilepsy.
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References in periodicals archive
PDE is caused by a mutation in ALDH7A1 gene encoding antiqutin.
P411L (c.1232C> T) heterozygous variation in the ALDH7A1 gene.
(11) This would suggest a possible slowly progressive neurodegenerative disease course of PDE caused by ALDH7A1 genetic defect.