Neurotransmitter disordersGene: ALDH7A1
Well established gene-disease association, condition is considered a disorder of neurotransmitter metabolism by some expert groups: deficiency of antiquitin leads to the buildup of α-aminoadipic semialdehyde, resulting in a disruption in the activity of pyridoxine, which in turn is required for the breakdown of neurotransmitters. Metabolic findings: increased serum and CSF levels of pipecolic acid; increased serum, CSF and urinary levels of alpha-aminoadipic semialdehyde. Treatable disorder.
Sources: Expert list
Created: 24 Aug 2020, 12:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epilepsy, pyridoxine-dependent, MIM# 266100
Variants in this GENE are reported as part of current diagnostic practice
gene: ALDH7A1 was added gene: ALDH7A1 was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100 Review for gene: ALDH7A1 was set to GREEN gene: ALDH7A1 was marked as current diagnostic