Catalog

Pyridoxine dependent epilepsy with antiquitin mutations

No MMS code

Link to WHO Definition

Pyridoxine dependent epilepsy with antiquitin mutations – http://id.who.int/icd/entity/1952154349

Pyridoxine dependent epilepsy is a condition characterised by early onset seizures that are unresponsive to any antiseizure therapy except pyridoxine (vitamin B6). The cause is mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate.