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Adenylosuccinase deficiency
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Overview
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.[1]
References
- Adenylosuccinate lyase deficiency. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1129/viewAbstract. Accessed September 8, 2011.
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General Information
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Adenylosuccinase deficiency. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Adenylosuccinase deficiency. Click on the link to go to OMIM and review these resources.
Diagrams/Images
- The Autism Speaks has developed a new Video Glossary, an innovative web-based tool designed to help parents and professionals learn more about the early red flags and diagnostic features of autism spectrum disorders (ASD). This glossary contains more than 150 video clips and is free of charge.