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.
___
1. Stockler S, Plecko B, Gospe SM Jr, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 2011; 104: 48-60.
2. Bass NE, Wyllie E, Cohen B, Joseph SA. Pyridoxinedependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. J Child Neurol 1996; 11: 422-424.
3. Grillo E, da Silva RJ, Barbato JH Jr. Pyridoxinedependent seizures responding to extremely lowdose pyridoxine. Dev Med Child Neurol 2001; 43: 413-415.
4. Plecko B, Stöckler S. Vitamin B6 dependent seizures. Can J Neurol Sci 2009; 36(Suppl 2): S73-S77.
5. Aliefendioğlu D, Aslan AT, Coskun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol 2003; 28: 151-155.
6. Tada K, Kure S, Takayanagi M, Kume A, Nrisawa K. Non-ketotic hyperglycinemia: A life-threatening disorder in the neonate. Early Hum Dev 1992; 29: 75-81.
7. Maeda T, Inutsuka M, Goto K, Izumi T. Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures. Pediatr Neurol 2000; 22: 225-227.
8. Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiencey). Brain 2010; 133(Pt 7): 2148-2159.
9. Van Karnebeek CD, Tiebout SA, Niermeijer J, et al. Pyridoxine-dependent epilepsy: an expanding clinical spectrum. Pediatr Neurol 2016; 59: 6-12.
10. Stöckler-Ipsiroglu S, Van Karnebeek CDM. Pyridoxine and pyridoxal-phosphate dependent epilepsies. In: Hoffmann GF, Blau N, (eds). Congential Neurotransmitter Disorders. Nova Science Publishers; 2014: 149-166.
11. Mercimek-Mahmutoglu S, Horvath GA, CoulterMackie M, et al. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. Pediatrics 2012; 129: e1368-e1372.
12. Pacifici GM. Clinical pharmacology of phenobarbital in neonates: effects, metabolism and pharmacokinetics. Curr Pediatr Rev 2016; 12: 48-54.
13. Aburawi SM, Ahmed SS, Elhwuegi AS, Saad SF, Attia AS. Brain glycine levels in triazolam-treated albino rats. J Neural Transm (Vienna) 2001; 108: 527-539.
14. Tekgul H, Serdaroğlu G, Karapinar B, et al. Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. J Child Neurol 2006; 21: 82-84.
15. Baxter P, Griffiths P, Kelly T, Gardner-Medwin D. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996; 38: 998-1006.
16. Van Karnebeek CD, Hartmann H, Jaggumantri S, et al. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab 2012; 107: 335-344.