Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia

Raffaella Cusmai, Diego Martinelli, Romina Moavero, Carlo Dionisi Vici, Federico Vigevano, Cinzia Castana, Mirella Elia, Silvia Bernabei, Elsa Bevivino

Research output: Contribution to journalArticlepeer-review


Non ketotic hyperglycinemia is a rare inborn error of glycine metabolism due to deficient activity of glycine cleavage system, a multienzymatic complex consisting of four protein subunits: the P-protein, the H-protein, the T-protein and the L-protein. The neonatal form of non ketotic hyperglycinemia presents in the first days of life with encephalopathy, seizures, multifocal myoclonus and characteristic "hiccups". Rapid progression may lead to intractable seizures, coma and respiratory failure requiring mechanical ventilation. Clinical trial with scavenges drugs decreasing glycine levels such as sodium benzoate, and with drugs reducing NMDA receptors excitatory properties, such as ketamine and dextromethorphan, have been tried but the outcome is usually poor; antiepileptic therapy, moreover, is unable to control epileptic seizures. Ketogenic diet has been successfully tried for refractory epilepsy in pediatric patients. We report three cases affected by neonatal non ketotic hyperglycinemia and early myoclonic encephalopathy treated with ketogenic diet. In our patients ketogenic diet, in association with standard pharmacological therapy, determined dramatic reduction of seizures and improved quality of life.

Original languageEnglish
Pages (from-to)509-513
Number of pages5
JournalEuropean Journal of Paediatric Neurology
Issue number5
Publication statusPublished - Sep 2012


  • Early myoclonic encephalopathy
  • Ketogenic diet
  • Non ketotic hyperglycinemia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health


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