GLUT1 deficiency syndrome 1, autosomal recessive

MedGen UID:: 460468
•Concept ID:: C3149117
•: Disease or Syndrome

Synonym:	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE

OMIM®:	138140; 606777

Recent clinical studies

Diagnosis

Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.

Dozières-Puyravel B, Zaman S, Petrou S, François L, Vuillaumier-Barrot S, Mochel F, Gras D, Auvin S
Brain Dev 2019 Oct;41(9):808-811. Epub 2019 Jun 10 doi: 10.1016/j.braindev.2019.05.008. PMID: 31196579

Glut1 deficiency: when to suspect and how to diagnose?

Verrotti A, D'Egidio C, Agostinelli S, Gobbi G
Eur J Paediatr Neurol 2012 Jan;16(1):3-9. Epub 2011 Oct 1 doi: 10.1016/j.ejpn.2011.09.005. PMID: 21962875

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