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Glutaric aciduria 1

Glutaric aciduria 1: Introduction

Glutaric aciduria 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 Glutaric aciduria 1 is available below.

Symptoms of Glutaric aciduria 1

Treatments for Glutaric aciduria 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 Glutaric aciduria 1:

Wrongly Diagnosed with Glutaric aciduria 1?

Causes of Glutaric aciduria 1

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

More information about causes of Glutaric aciduria 1:

Glutaric aciduria 1: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Glutaric aciduria 1

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can be misdiagnosed as various conditions such as more »

Glutaric aciduria 1: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Prognosis for Glutaric aciduria 1

Prognosis for Glutaric aciduria 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.

Glutaric aciduria 1: Broader Related Topics

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More information about Glutaric aciduria 1

  1. Glutaric aciduria 1: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Prognosis

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