Adenylosuccinase deficiency

What is adenylosuccinase 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.

Last updated on 05-01-20

What is the prognosis of adenylosuccinase deficiency?

The prognosis for adenylosuccinase deficiency is generally poor. Some individuals, particularly those with severe forms or with early onset of epilepsy, have died in early infancy. Others have died at around 10 years of age. Most often, these individuals experience delayed progression of psychomotor development and persistence of autistic behavior. Nevertheless, some patients fare relatively well, with the oldest of these patients over thirty years of age.

Last updated on 05-01-20

How might adenylosuccinase deficiency be treated?

At the current time, there are no effective therapies for the treatment of adenylosuccinase deficiency. Treatment is supportive based on the specific features.

Last updated on 05-01-20

Name: Autism Speaks 1 East 33rd St. 4th Floor
New York, NY, 10016, United States
Phone: 212-252-8584 Fax : 212-252-8676 Email: Url:
Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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