RESUMEN
BACKGROUND: Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in GLUT1DS. METHODS: Four patients with GLUT1DS ages 15 to 30 years who had movement disorders as the most prominent feature were prospectively evaluated after initiation of the modified Atkins diet. Movement disorders included dystonia, ataxia, myoclonus, and spasticity, either continuous or paroxysmal, triggered by action or exercise. Duration of treatment ranged from 3 months to 16 months. RESULTS: All patients reached mild to moderate ketosis and experienced remarkable improvement in the frequency and severity of paroxysmal movement disorders. Cognitive function also improved subjectively. CONCLUSIONS: The modified Atkins diet is an effective and feasible alternative to the ketogenic diet for the treatment of GLUT1DS-related paroxysmal movement disorders in adolescence and adulthood.
Asunto(s)
Errores Innatos del Metabolismo de los Carbohidratos/dietoterapia , Dieta Baja en Carbohidratos , Proteínas de Transporte de Monosacáridos/deficiencia , Trastornos del Movimiento/dietoterapia , Adolescente , Adulto , Ataxia/dietoterapia , Ataxia/etiología , Errores Innatos del Metabolismo de los Carbohidratos/genética , Trastornos del Conocimiento/dietoterapia , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/psicología , Dieta Baja en Carbohidratos/efectos adversos , Femenino , Humanos , Cetosis/dietoterapia , Cetosis/etiología , Masculino , Proteínas de Transporte de Monosacáridos/genética , Trastornos del Movimiento/genética , Mioclonía/dietoterapia , Mioclonía/etiología , Cooperación del Paciente , Convulsiones/etiología , Resultado del Tratamiento , Adulto JovenAsunto(s)
Dieta Cetogénica/métodos , Estado Epiléptico/dietoterapia , Adolescente , Aminoácidos/administración & dosificación , Aminoácidos/uso terapéutico , Carbohidratos de la Dieta/administración & dosificación , Resistencia a Medicamentos , Electroencefalografía , Epilepsia Generalizada/dietoterapia , Epilepsia Tónico-Clónica/complicaciones , Epilepsia Tónico-Clónica/dietoterapia , Emulsiones Grasas Intravenosas/administración & dosificación , Femenino , Motilidad Gastrointestinal/fisiología , Humanos , Hipoglucemiantes/uso terapéutico , Inyecciones Intravenosas , Cetosis/metabolismo , Mioclonía/complicaciones , Mioclonía/dietoterapiaRESUMEN
OBJECTIVE: To report on the effects of the ketogenic diet on a 9-year-old boy with myoclonic jerks due to subacute sclerosing panencephalitis (SSPE). METHODS: A 9-year-old boy presented with progressively worsening myoclonus unresponsive to valproic acid and clonazepam. He was started on the ketogenic diet maintaining urine ketones at greater than 80 mg x dl(-1). RESULTS: Within 2 weeks of dietary initiation, myoclonic jerks stopped. Four weeks later he developed cognitive slowing. Results of electroencephalogram and cerebrospinal fluid analysis were consistent with SSPE. Three months after ketogenic diet initiation, myoclonic jerks reappeared and were refractory to treatment. CONCLUSION: The ketogenic diet may be useful in controlling, even temporarily, the myoclonic jerks of SSPE.