We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA).Such association read more 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 read more paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism.