Sindrome da deficit del GLUT-1

Alimenti a Fini Medici Speciali

Questa malattia è causata da un difetto della proteina GLUT-1  a livello della barriera emato-encefalica e nelle cellule del cervello che impedisce il passaggio del glucosio e quindi causa severi problemi neurologici ai pazienti; infatti normalmente il cervello utilizza esclusivamente il glucosio come fonte energetica. Ad oggi la dieta chetogenica è l’unica terapia possibile; infatti i corpi chetonici, a differenza dei grassi, possono passare la barriera emato-encefalica e fornire energia al cervello dei soggetti affetti. I soggetti con sindrome del GLUT-1  devono seguire una dieta chetogenica  assolutamente rigorosa per poter condurre una vita normale.

Bibliografia essenziale:
Bertoli S, Trentani C, Ferraris C, De Giorgis V, Veggiotti P, Tagliabue A. Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: a case series. Nutrition. Jun 2014;30(6):726-728.
Brockmann K. Towards a more palatable treatment for Glut1 deficiency syndrome. Dev Med Child Neurol. Jul 2011;53(7):580-581.
Gordon N, Newton RW. Glucose transporter type1 (GLUT-1) deficiency. Brain Dev. Oct 2003;25(7):477-480.
Klepper J, Leiendecker B. Glut1 deficiency syndrome and novel ketogenic diets. J Child Neurol. Aug 2013;28(8):1045-1048.
Klepper J. GLUT-1 deficiency syndrome in Norway--yet another piece of the puzzle. Dev Med Child Neurol. May 2013;55(5):400-401.
Ramm-Pettersen A, Nakken KO, Skogseid IM, et al. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Dev Med Child Neurol. May 2013;55(5):440-447.
Rauchenzauner M, Klepper J, Leiendecker B, Luef G, Rostasy K, Ebenbichler C. The ketogenic diet in children with Glut1 deficiency syndrome and epilepsy. J Pediatr. Nov 2008;153(5):716-718.
Veggiotti P, De Giorgis V. Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome. Curr Treat Options Neurol. May 2014;16(5):291.
Vykuntaraju KN, Bhat S, Sanjay KS, Govindaraju M. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet. Indian J Pediatr. Sep 2014;81(9):934-936.

Malattie neurologiche rare

Su Class Tv il Prof. Pierangelo Veggiotti con il Dr. Massimiliano Barone

La sindrome da deficit del GLUT-1

Dr. Raffaele Pilla, Pharm.D., Ph.D.

- External Pharmacy - Fatebenefratelli Hospital Benevento, Italy

- Operative Unit of Child and Adolescent Neuropsychiatry Faculty of Medicine and Surgery University of Salerno, Italy

- Italian Glut1 Deficit Association - www.glut1.it Scientific Committee Novate Milanese, Milano, Italy

- Morsani College of Medicine Dpt. Molecular Pharmacology and Physiology University of South Florida Tampa, Florida (U.S.A)

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