GLUT1 deficiency syndrome type 2

GLUT1 deficiency syndrome type 2

A clinically variable disorder (OMIM:612126) characterised by childhood onset of paroxysmal exertion- or exercise-induced dyskinesia, consisting of transient abnormal involuntary movements (e.g., dystonia and choreoathetosis) affecting the exercised limbs. Some patients also have epilepsy, especially absences; mild mental retardation; involuntary exertion-induced dystonic, choreoathetotic and ballistic movements; and possibly macrocytic haemolytic anaemia.

Molecular pathology
Defects of SLC2A1, which encodes a facilitative glucose transporter with very broad substrate specificity, cause GLUT1 deficiency syndrome type 2.