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GLUT1 deficiency

Endocrine, Nutritional and Metabolic Diseases

GLUT1 deficiency syndrome, abbreviated GLUT1-DS and also known as De Vivo disease or glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder. It is associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. The estimated birth incidence ranges from 1 in 90,000 to 1 in 24,300, which translates to an estimated prevalence of 3,000 to 7,000 people in the United States. The names De Vivo disease and glucose transporter type 1 deficiency syndrome are used for the same condition. This record describes the disorder as the source states it and is not medical advice.

Facts
Classification
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 1
Communicable or Non-communicable
Non-Communicable 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 2
Sources
1. Monarch Initiative: Monarch Initiative disease search for GLUT1 deficiency
Monarch Initiativecross reference (xref) of the matching disease record
Quote, cross reference (xref) of the matching disease record
ICD10CM:E74.810
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2. GLUT1 deficiency (Wikipedia)
Lead section
Quote, Lead section
autosomal dominant genetic metabolic disorder
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