Angelman syndrome and isovaleric acidemia: What is the link?
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SUBMITTER: Lambrecht A
PROVIDER: S-EPMC4750580 | biostudies-other | 2015 Jun
REPOSITORIES: biostudies-other
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Angelman syndrome and isovaleric acidemia: What is the link?
Lambrecht Alix A Pichard Samia S Maurey Hélène H Segarra Nuria Garcia NG Drunat Séverine S Acquaviva-Bourdain Cécile C Passemard Sandrine S Benoist Jean-François JF Fauret-Amsellem Anne-Laure AL Schiff Manuel M
Molecular genetics and metabolism reports 20150330
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 rare ...[more]
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