The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 4
The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia
Hande Gazeteci-Tekin 1 ,Melis Demir 2 ,Gül Aktan 3 ,Hasan Tekgül 3 ,Sarenur Gökben 3
1 Department of Pediatric Neurology, Çiğli Regional Education Hospital, Izmir, Turkey
2 Department of Metabolic Disorders, Dr. Behcet Uz Children’s Training and Research Hospital; Izmir, Turkey
3 Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey
DOI : 10.24953/turkjped.2019.04.019 Gazeteci-Tekin H, Demir M, Aktan G, Tekgül H, Gökben S. The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia. Turk J Pediatr 2019; 61: 599-603.

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. Keywords : b6 deficiency, non-ketotic hyperglycinemia, corpus callosum hypoplasia, burst suppression

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