ALDH7A1

Gene product: formaldehyde dehydrogenase 7 family member 1.

Protein function: During the lysine catabolism process, the enzyme can convert α-aminoadipic semialdehyde (α-ALAS) into α-aminoadipic acid. The inactivation of the enzyme can lead to the accumulation of α-ALAS. Piperidine 6-phosphate (P6C) and α-ALAS are in a dynamic equilibrium in the body. The accumulation of α-ALAS increases the level of P6C. P6C can bind to pyridoxal phosphate and inactivate it.

Phenotype: Pyridoxine (vitamin B6)-dependent epilepsy (AR)[1].

Mutation database: ClinVar.

Clinical research: PubMed (PMID:16491085 (Nat Med. 2006)).

Medication reminder: Lifelong supplementation of pyridoxine (vitamin B6) is required.

References:

1. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006 Mar;12(3):307-9.