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What is Encephalopathy due to GLUT1 deficiency?

What is Encephalopathy due to GLUT1 deficiency?

  • Encephalopathy due to GLUT1 deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Encephalopathy due to GLUT1 deficiency as a "rare disease".
Source - Orphanet

Encephalopathy due to GLUT1 deficiency: Introduction

Types of Encephalopathy due to GLUT1 deficiency:

Broader types of Encephalopathy due to GLUT1 deficiency:

How serious is Encephalopathy due to GLUT1 deficiency?

Prognosis of Encephalopathy due to GLUT1 deficiency: Early detection and treatment can significantly improve outcomes by avoiding or reducing neurological damage. The underlying condition varies considerably with respect to severity and some patients may remain asymptomatic without treatment. The long term outcome generally depends on avoiding a metabolic crisis which causes neurological damage.

What causes Encephalopathy due to GLUT1 deficiency?

Causes of Encephalopathy due to GLUT1 deficiency: see causes of Encephalopathy due to GLUT1 deficiency

What are the symptoms of Encephalopathy due to GLUT1 deficiency?

Symptoms of Encephalopathy due to GLUT1 deficiency: see symptoms of Encephalopathy due to GLUT1 deficiency

Encephalopathy due to GLUT1 deficiency: Testing

Diagnostic testing: see tests for Encephalopathy due to GLUT1 deficiency.

Misdiagnosis: see misdiagnosis and Encephalopathy due to GLUT1 deficiency.

How is it treated?

Treatments for Encephalopathy due to GLUT1 deficiency: see treatments for Encephalopathy due to GLUT1 deficiency

Name and Aliases of Encephalopathy due to GLUT1 deficiency

Main name of condition: Encephalopathy due to GLUT1 deficiency

Other names or spellings for Encephalopathy due to GLUT1 deficiency:

Glucose transporter type 1 deficiency syndrome

 

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