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What is Argininosuccinic aciduria?

What is Argininosuccinic aciduria?

  • Argininosuccinic aciduria: A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood.

Argininosuccinic aciduria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Argininosuccinic aciduria, or a subtype of Argininosuccinic aciduria, 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 Argininosuccinic aciduria as a "rare disease".
Source - Orphanet

Argininosuccinic aciduria: Introduction

Types of Argininosuccinic aciduria:

Broader types of Argininosuccinic aciduria:

How serious is Argininosuccinic aciduria?

Complications of Argininosuccinic aciduria: see complications of Argininosuccinic aciduria

What causes Argininosuccinic aciduria?

Causes of Argininosuccinic aciduria: see causes of Argininosuccinic aciduria

What are the symptoms of Argininosuccinic aciduria?

Symptoms of Argininosuccinic aciduria: see symptoms of Argininosuccinic aciduria

Complications of Argininosuccinic aciduria: see complications of Argininosuccinic aciduria

Onset of Argininosuccinic aciduria: within days of birth

Argininosuccinic aciduria: Testing

Diagnostic testing: see tests for Argininosuccinic aciduria.

Misdiagnosis: see misdiagnosis and Argininosuccinic aciduria.

How is it treated?

Doctors and Medical Specialists for Argininosuccinic aciduria: Medical Geneticist ; see also doctors and medical specialists for Argininosuccinic aciduria.
Treatments for Argininosuccinic aciduria: see treatments for Argininosuccinic aciduria
Research for Argininosuccinic aciduria: see research for Argininosuccinic aciduria

Name and Aliases of Argininosuccinic aciduria

Main name of condition: Argininosuccinic aciduria

Other names or spellings for Argininosuccinic aciduria:

ASA deficiency, ASL deficiency, arginino succinase deficiency, argininosuccinate lyase deficiency, Inborn error of urea synthesis, arginino succinic type, Urea cycle disorder, arginino succinase type

ASA deficiency, ASL deficiency, Arginino succinase deficiency, Argininosuccinate lyase deficiency, Inborn error of urea synthesis, arginino succinic type, Urea cycle disorder, arginino succinase type, Inborn error of urea synthesis, arginino succinic type, Urea cycle disorder, arginino succinase type, ASA deficiency, ASL deficiency, Arginino succinase deficiency, Argininosuccinate lyase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Argininosuccinic aciduria: Related Conditions

Research the causes of these diseases that are similar to, or related to, Argininosuccinic aciduria:

 

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