Title : Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

Pub. Date : 2021

PMID : 34495967






1 Functional Relationships(s)
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1 All GABA pathway metabolites (gamma-hydroxybutyrate, glutamine, glutamate, total GABA, succinic semialdehyde) and TCA cycle metabolites (citrate, malate, fumarate, isocitrate, lactate) were significantly low in the homozygous knock-out aldh7a1 zebrafish compared to the wildtype zebrafish. malic acid aldehyde dehydrogenase 7 family, member A1 Danio rerio