Angelman syndrome and isovaleric acidemia: What is the link?

Angelman syndrome and isovaleric acidemia: What is the link?

Blog Article

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 Pails 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 Figures lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism.