Adenylosuccinase Deficiency

Common Name(s)

Adenylosuccinase Deficiency, Adenylosuccinate lyase deficiency

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 usually includes abnormalities with cognition and movement, autistic features, epilepsy, muscle wasting, and feeding problems. Although less common, abnormal physical features can include severe growth failure, small head, abnormally shaped head, strabismus, small nose with upturned nostrils, thin upper lip, and low set ears. Adenylosuccinase deficiency is caused by mutations in the ADSL gene and is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adenylosuccinase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adenylosuccinase Deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.
 

Author(s): C Salerno, P D'Eufemia, R Finocchiaro, M Celli, A Spalice, P Iannetti, C Crifò, O Giardini

Journal: Biochim. Biophys. Acta. 1999 Jan;1453(1):135-40.

 

Oral supplementation of 10 mmol/kg/day of D-ribose to a patient with an inherited deficit of adenylosuccinase, severe psychomotor retardation, and epilepsy caused a marked increase in plasma concentration and urinary excretion of urate, while minor changes in succinylpurine levels ...

Last Updated: 25 Feb 1999

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Reviews from the PubMed Database

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The terms "Adenylosuccinase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.