The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia

Abstract

Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene. Different clinical findings may appear in the deficiency of pyridoxine, which is the cofactor of many enzymes. A wide variety of clinical and laboratory findings can cause confusion during diagnosis. We present a male with neonatal convulsions; structural brain anomaly, hyperglycinemia in CSF/plasma, with ALDH7A1 Compound heterozygote mutation.