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Glutaryl-CoA dehydrogenase deficiency

Glutaryl-CoA dehydrogenase deficiency: Introduction

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. More detailed information about the symptoms, causes, and treatments of Glutaryl-CoA dehydrogenase deficiency is available below.

Symptoms of Glutaryl-CoA dehydrogenase deficiency

Treatments for Glutaryl-CoA dehydrogenase deficiency

  • Diet modification (low protein diet), avoid fasting, carnitine supplements and aggressive treatment of illnesses may reduce or prevent neurological damage. Genetic counseling is recommended
  • more treatments...»

Wrongly Diagnosed with Glutaryl-CoA dehydrogenase deficiency?

Glutaryl-CoA dehydrogenase deficiency: Complications

Read more about complications of Glutaryl-CoA dehydrogenase deficiency.

Causes of Glutaryl-CoA dehydrogenase deficiency

  • The genetic condition is inherited in an autosomal recessive manner
  • more causes...»

More information about causes of Glutaryl-CoA dehydrogenase deficiency:

Misdiagnosis and Glutaryl-CoA dehydrogenase deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis)....read more »

Prognosis for Glutaryl-CoA dehydrogenase deficiency

Prognosis for 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.

Statistics for Glutaryl-CoA dehydrogenase deficiency

Glutaryl-CoA dehydrogenase deficiency: Broader Related Topics

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Definitions of Glutaryl-CoA dehydrogenase deficiency:

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

Related Glutaryl-CoA dehydrogenase deficiency Info

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More information about Glutaryl-CoA dehydrogenase deficiency

  1. Glutaryl-CoA dehydrogenase deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Complications
  7. Prognosis
 

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