" /> Glut1 deficiency syndrome 1 - CISMeF





Preferred Label : Glut1 deficiency syndrome 1;

Symbol : GLUT1DS1;

CISMeF acronym : GLUT1DS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glucose transport defect, blood-brain barrier;

Included titles and symbols : Glut1 deficiency syndrome 1, autosomal recessive;

Inheritance : Autosomal dominant; Autosomal recessive (rare);

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, 138140.0001);

Laboratory abnormalities : Hypoglycorrhachia (low glucose in CSF); Low-to-normal CSF lactate; Reduced erythrocyte glucose/hexose transport;

Prefixed ID : #606777;

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03/05/2025


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