Adenylosuccinase deficiency

Summary: Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which ...1

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Symptoms of Adenylosuccinase deficiency

Symptoms: The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign ...2

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Treatments: Adenylosuccinase deficiency

Treatment: At the current time, there are no effective therapies for the treatment of adenylosuccinase deficiency. Treatment is supportive based on the specific features.[1] Last updated: 9/8/2011 ...Source: GARD (NIH)3 ...

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Names and Terminology

Other Names: Adenylosuccinate lyase deficiency; ADSL deficiency ...Source: GARD (NIH)4 ...

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 550/ adenylosuccinase-deficiency
  2. ibid.
  3. ibid.
  4. ibid.

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