title: Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.
abstract: 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.
authors.affiliation: Neurology Unit, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cusmai
authors.forename: Diego
authors.initials: D
authors.lastname: Martinelli
authors.forename: Romina
authors.initials: R
authors.lastname: Moavero
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi Vici
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Cinzia
authors.initials: C
authors.lastname: Castana
authors.forename: Mirella
authors.initials: M
authors.lastname: Elia
authors.forename: Silvia
authors.initials: S
authors.lastname: Bernabei
authors.forename: Elsa
authors.initials: E
authors.lastname: Bevivino
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D003131:Combined Modality Therapy; D055423:Diet, Ketogenic; D005260:Female; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000150:complications / Q000178:diet therapy* / Q000188:drug therapy; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D053578:Opsoclonus-Myoclonus Syndrome / Q000178:diet therapy* / Q000188:drug therapy / Q000209:etiology; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants