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.

单词	glut1 deficiency syndrome type 2
释义	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.
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