Genetics e Rare diseases

New inherited neurometabolic disorder

Researchers have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused by mutations in the ADK gene, which codes for the enzyme adenosine kinase. The findings are presented in the American Journal of Human Genetics.
Read more

 http://ki.se/ki/jsp/polopoly.jsp?d=130&a=128613&l=en&newsdep...

Karolinska Institutet