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

Abstract

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.