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

Özet

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