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Glutaricaciduria type 1

Glutaricaciduria type 1: Introduction

Glutaricaciduria type 1: 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 Glutaricaciduria type 1 is available below.

Symptoms of Glutaricaciduria type 1

Treatments for Glutaricaciduria type 1

  • 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...»

Home Diagnostic Testing

Home medical testing related to Glutaricaciduria type 1:

Wrongly Diagnosed with Glutaricaciduria type 1?

Glutaricaciduria type 1: Complications

Read more about complications of Glutaricaciduria type 1.

Causes of Glutaricaciduria type 1

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

More information about causes of Glutaricaciduria type 1:

Glutaricaciduria type 1: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Glutaricaciduria type 1

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can more »

Glutaricaciduria type 1: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Prognosis for Glutaricaciduria type 1

Prognosis for Glutaricaciduria type 1: 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 Glutaricaciduria type 1

Glutaricaciduria type 1: Broader Related Topics

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Definitions of Glutaricaciduria type 1:

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

Related Glutaricaciduria type 1 Info

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More information about Glutaricaciduria type 1

  1. Glutaricaciduria type 1: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Complications
  8. Prognosis

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