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GLUT1 deficiency syndrome
Pathology:
- defect in glucose transport across the blood-brain barrier
Genetics:
- autosomal dominant form associated with defects in SLC2A1 (GLUT1)
Clinical manifestations:
- infantile seizures
- delayed development
- acquired microcephaly
Management:
- triheptanoin (Dojolvi) used experimentally to treat GLUT1 deficiency syndrome
General
carbohydrate inborn error of metabolism
syndrome
Database Correlations
OMIM 606777
References
OMIM :accession 606777