Adenylosuccinase deficiency

Disease Overview

Adenylosuccinase deficiency impacts the way the body breaks down certain chemicals and results in damage to the nervous system. There are several types of adenylosuccinase deficiency. Symptoms vary greatly from person to person. In general, adenylosuccinase deficiency causes intellectual and movement disabilities, autistic features, epilepsy, low muscle tone, and feeding problems. In the most severe form of this condition, symptoms begin in infancy and death usually occurs in early childhood. Adenylosuccinase deficiency occurs due to a ADSL gene that is not working correctly and is inherited in an autosomal recessive fashion. It is diagnosed based on the clinical examination, imaging studies, laboratory tests, and confirmed by genetic testing. Treatment is focused on managing the symptoms, especially epilepsy.[4304][15709][15710]

Synonyms

• Adenylosuccinate lyase deficiency
• ADSL deficiency