Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia
| Autor: | Diego Martinelli, Romina Moavero, S.M. Bernabei, Federico Vigevano, Carlo Dionisi Vici, Raffaella Cusmai, Elsa Bevivino, Mirella Elia, Cinzia Castana |
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| Rok vydání: | 2012 |
| Předmět: |
Male
medicine.medical_specialty Hyperglycinemia Hyperglycinemia Nonketotic medicine.medical_treatment Encephalopathy Anticonvulsants Combined Modality Therapy Female Humans Infant Infant Newborn Opsoclonus-Myoclonus Syndrome Treatment Outcome Ketogenic Diet Internal medicine Opsoclonus myoclonus syndrome Ketotic hyperglycinemia Medicine Early myoclonic encephalopathy Nonketotic Glycine cleavage system business.industry General Medicine Newborn medicine.disease Settore MED/39 - Neuropsichiatria Infantile Endocrinology Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom Diet Ketogenic business Myoclonus Ketogenic diet |
| Zdroj: | European Journal of Paediatric Neurology. 16:509-513 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/j.ejpn.2011.12.015 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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