GLUT-1 deficiency syndrome

This disease is caused by a defective protein GLUT-1 at the blood-brain barrier and brain cells level which prevents the passage of glucose, thus causing severe neurological problems in patients; in fact, normally the brain only uses glucose as an energy source. To date, a ketogenic diet is the only treatment possible; in fact, ketone bodies, unlike fat, can pass the blood-brain barrier and provide energy to the brain of affected individuals. Individuals with GLUT-1 syndrome must follow a ketogenic diet absolutely rigorously in order to lead a normal life.

Essential References:

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. 2003 Oct; 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.

Rare neurological diseases

TV Class of Prof. Pierangelo Veggiotti with Dr. Massimiliano Barone

GLUT-1 deficiency syndrome

Dr. Raffaele Pilla, Pharm.D., PhD.

- 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 - Scientific Committee Novate Milanese, Milan, Italy

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

Raffaele Pilla at the 2014 Matthew's Friends

Photo album of the 1st Convention on GLUT1 Carrier Deficiency which took place in Pavia on 13 September 2014.
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