Angelman syndrome and isovaleric acidemia: What is the link?

摘要

Abstract We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an {IVA} gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of {IVA} should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal {UPD} 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism.