Argininosuccinic aciduria

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive ...1

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Symptoms of Argininosuccinic aciduria

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Argininosuccinic aciduria

Genetic Changes: Mutations in the ASL gene cause argininosuccinic aciduria . Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen ...2

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH) ...3

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ argininosuccinic-aciduria
  2. ibid.
  3. ibid.

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