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What is Glutaryl-CoA dehydrogenase deficiency?

What is Glutaryl-CoA dehydrogenase deficiency?

  • Glutaryl-CoA dehydrogenase 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.

Glutaryl-CoA dehydrogenase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Glutaryl-CoA dehydrogenase deficiency, or a subtype of Glutaryl-CoA dehydrogenase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

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

Glutaryl-CoA dehydrogenase deficiency: Introduction

Types of Glutaryl-CoA dehydrogenase deficiency:

Broader types of Glutaryl-CoA dehydrogenase deficiency:

How serious is Glutaryl-CoA dehydrogenase deficiency?

Prognosis of Glutaryl-CoA dehydrogenase 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.
Complications of Glutaryl-CoA dehydrogenase deficiency: see complications of Glutaryl-CoA dehydrogenase deficiency

What causes Glutaryl-CoA dehydrogenase deficiency?

Causes of Glutaryl-CoA dehydrogenase deficiency: see causes of Glutaryl-CoA dehydrogenase deficiency

What are the symptoms of Glutaryl-CoA dehydrogenase deficiency?

Symptoms of Glutaryl-CoA dehydrogenase deficiency: see symptoms of Glutaryl-CoA dehydrogenase deficiency

Complications of Glutaryl-CoA dehydrogenase deficiency: see complications of Glutaryl-CoA dehydrogenase deficiency

Glutaryl-CoA dehydrogenase deficiency: Testing

Misdiagnosis: see misdiagnosis and Glutaryl-CoA dehydrogenase deficiency.

How is it treated?

Treatments for Glutaryl-CoA dehydrogenase deficiency: see treatments for Glutaryl-CoA dehydrogenase deficiency

Name and Aliases of Glutaryl-CoA dehydrogenase deficiency

Main name of condition: Glutaryl-CoA dehydrogenase deficiency

Other names or spellings for Glutaryl-CoA dehydrogenase deficiency:

Glutaric aciduria type 1, Glutaric acidemia type 1 Source - Diseases Database

Glutaric aciduria I, GA I, Glutaric acidemia I
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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