Preferred Label : Pyridoxine dependent epilepsy with antiquitin mutations;
ICD-11 definition : Pyridoxine dependent epilepsy is a condition characterized 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.;
ICD-11 synonym : Epilepsy due to vitamin B6 or pyridoxine deficiency; Vitamin B6-responsive seizures; Glutamate decarboxylase deficiency; Pyridoxine-responsive seizures; Pyridoxine-dependent seizures;
Origin ID : 1952154349;
Automatic exact mappings (from CISMeF team)
Pyridoxine dependent epilepsy is a condition characterized 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.
