RESUMO
AIM: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) results from impaired glucose transport into the brain, and is treated with a ketogenic diet. A few reports have suggested effectiveness of treatment using the modified Atkins diet (MAD). We aimed to assess the efficacy of MAD as a treatment for GLUT1-DS. METHOD: We evaluated the efficacy of MAD in 10 patients (four males, six females; mean age at diagnosis [SD] 6.2y [1.7], min-max: 4mo-12y) with GLUT1-DS. RESULTS: MAD was started at diagnosis in eight patients, including two infants. The mean duration (SD) under MAD was 2.5 [0.6] years (range 6mo-6y). Seven patients with epilepsy started MAD at GLUT1-DS diagnosis, and all experienced improvements in their epilepsy: five out of seven were seizure-free at M1, and three out of six at M3 and M6. The initiation of MAD allowed symptoms to be controlled in the three patients with movement disorders but without seizures. Two patients switched from the ketogenic diet to MAD. This switch was not responsible for the recurrence of any symptoms, and led to improvements in both physical abilities and growth parameters. INTERPRETATION: MAD, which is a less restrictive and more palatable diet than the ketogenic diet, seems to have comparable effectiveness. Moreover, a switch from the ketogenic diet to MAD appears to be beneficial for patients with GLUT1-DS.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/dietoterapia , Dieta com Restrição de Carboidratos/métodos , Epilepsia/dietoterapia , Proteínas de Transporte de Monossacarídeos/deficiência , Transtornos dos Movimentos/dietoterapia , Avaliação de Resultados em Cuidados de Saúde , Erros Inatos do Metabolismo dos Carboidratos/complicações , Criança , Pré-Escolar , Dieta Cetogênica/métodos , Epilepsia/etiologia , Feminino , França , Humanos , Lactente , Masculino , Transtornos dos Movimentos/etiologia , Estudos RetrospectivosRESUMO
The ketogenic diet is an evidence-based treatment for resistant epilepsy including Lennox-Gastaut syndrome. This diet is based on low carbohydrate-high fat intakes. Dietary treatment is also therapeutic for inborn errors of metabolism such as aminoacdiopathies. We report a child with both Lennox-Gastaut syndrome and tyrosinemia type 1. This epilepsy syndrome resulted form a porencephalic cyst secondary to brain abscesses that occurred during the management of malnutrition due to untreated tyrosinemia type 1. We used a ketogenic diet as treatment for Lennox-Gastaut syndrome taking into account dietary requirements for tyrosinemia type 1. The patient was transiently responder during a 6-month period. This report illustrates that ketogenic diet remains a therapeutic option even when additional dietary requirements are needed.
