Zeynep AKIŞIN, Ünsal YILMAZ, Melis KÖSE, Selvinaz EDİZER, Aycan ÜNALP

Klasik Nonketotik Hiperglisinemi Tanılı Bebekte İlaca Dirençli Epilepsi Tedavisinde Ketojenik Diyet Uygulaması: Bir Olgu Sunumu

Nonketotik hiperglisinemi (NKH), glisin yıkımında görevli bir enzim eksikliğine bağlı otozomal resesif geçiş gösteren bir metabolizma hastalığıdır. Hipotoni, gelişme geriliği ve ilaca dirençli nöbetler ile karakterizedir. Gelişme geriliği ve 45 günlük iken başlayan nöbetler nedeniyle başvuran ve nonketotik hiperglisinemi tanısı alan hastaya yatışının ikinci gününde levetirasetam, dekstrometorfan ve sodyum benzoat tedavisi başlanmıştır. İzlemde fenobarbital eklenmesine karşılık nöbetleri devam eden hastaya ketojenik diyet tedavisi (KDT) başlanması planlanmıştır. Belirgin bir yan etkinin görülmediği hastada, tedavinin üçüncü gününden itibaren nöbet sıklığı ve şiddetinde %50’den fazla azalma görülmüştür. Klasik KDT, antiepileptik ilaçlara dirençli NKH hastalığında etkin ve güvenilir bir tedavi yöntemi olabilir.

Ketogenic Diet Treatment of Drug Resistance Epilepsy in an Infant with Classic Nonketotic Hyperglycinemia

Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by an enzyme deficiency which breaks down the amino acid glycine. It is characterized by hypotonia, growth retardation and drug-resistant seizures. The patient presented to our clinic with growth retardation and seizures starting from the 45th days of age. A diagnosis of NKH was made, and levetiracetam, dextromethorphan and sodium benzoate were started in two days after diagnosis. Despite the addition of phenobarbital in the follow-up, the patient continued to have seizures and a ketogenic diet was planned. Frequency and severity of seizures were reduced by more than 50% at the third day of treatment, and no significant side effects were reported. Classic KDT may be an effective and reliable treatment in NKH patients with drug-resistant seizures.

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