MeSH Browser

MeSH Supplementary: Glut1 Deficiency Syndrome
Unique ID: C536830
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536830
Entry Term(s): De Vivo disease; Encephalopathy Due To Glut1 Deficiency; GLUT-1 deficiency syndrome; Glucose Transporter Protein Syndrome; Glucose Transporter Type 1 Deficiency Syndrome; Glucose transport defect, blood-brain barrier; Glucose transporter type1 (GLUT-1) deficiency
Heading Mapped to: *Carbohydrate Metabolism, Inborn Errors; Monosaccharide Transport Proteins / deficiency
Frequency: 161
Note: A hereditary, usually autosomal dominant, neurologic disorder showing wide phenotypic variability and characterized by low CSF GLUCOSE (<40mg/dL) and low CSF LACTATE. The most severe cases present with infantile-onset epileptic encephalopathy, DEVELOPMENTAL DELAY, acquired MICROCEPHALY, motor incoordination, and MUSCLE SPASTICITY. Seizures typically appear during the first 4 months of life. Sudden onset of Intermittent ATAXIA; CONFUSION; LETHARGY; sleep disturbances, and HEADACHE may also occur. Cognitive impairment may range from LEARNING DISABILITIES to severe INTELLECTUAL DISABILITY. Mutations in the GLUT1 gene have been identified. OMIM: 606777
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Glut1 Deficiency Syndrome MeSH Supplementary Concept Data 2024