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Chapter 13 - Disorders of Energy Metabolism: GLUT1 Deficiency Syndrome and Movement Disorders

from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Roser Pons ,
Toni S. Pearson  and
Darryl C. De Vivo
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1 DS) (OMIM 606777) is a disorder of brain energy metabolism caused by insufficient transport of glucose from the blood to the brain. The first patients were reported by De Vivo et al. in 1991 (hence the disorder is also referred to as De Vivo syndrome). The original patients presented with an early infantile-onset developmental encephalopathy associated with seizures, acquired microcephaly, low cerebrospinal fluid (CSF) glucose and lactate concentrations, and a decreased uptake of glucose by isolated erythrocytes in vitro [1].

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 183 - 195
Publisher: Cambridge University Press
Print publication year: 2020

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References

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