GLUT1 deficiency syndrome; Glucose transport defect of the blood-brain barrier
Description
GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding the GLUT1 transporter. Defects in the GLUT1 result in low cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C61 Disorders of carbohydrate absorption or transport
H00836 GLUT1 deficiency syndrome
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H00836 GLUT1 deficiency syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00836 GLUT1 deficiency syndrome
