1. [Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome].
- Author
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Pascual JM, Lecumberri B, Wang D, Yang R, Engelstad K, and De Vivo DC
- Subjects
- Animals, Blood-Brain Barrier physiology, Brain Diseases, Metabolic, Inborn complications, Brain Diseases, Metabolic, Inborn physiopathology, Diagnosis, Differential, Glucose Transporter Type 1, Humans, Infant, Intellectual Disability etiology, Movement Disorders etiology, Phenotype, Spasms, Infantile etiology, Syndrome, Brain Diseases, Metabolic, Inborn genetics, Monosaccharide Transport Proteins deficiency, Monosaccharide Transport Proteins genetics
- Abstract
Aim: To define this genetic syndrome., Development: The constellation of infantile epilepsy, acquired microcephaly and hypoglychorrachia is characteristic of glucose transporter type 1 (Glut1) deficiency syndrome, a prototype neurometabolic disorder caused by inheritable mutations in the gene SLC2A1. All known mutations reduce the function of Glut1 in the blood brain barrier and thus limit brain glucose availability. As the cerebral metabolic rate for glucose increases during infancy, patients become gradually symptomatic, a phenomenon that underscores the importance of early diagnosis via lumbar puncture and treatment, which has meet with some success in ameliorating several --but not all-- features of the disease., Conclusion: The increasing number of mild phenotypic variants being described, owing to the improved awareness of the disease, has led to the consideration of Glut1 deficiency in the diagnosis of infantile seizures, mental retardation, familial epilepsy and movement disorders.
- Published
- 2004