title: Angelman syndrome and isovaleric acidemia: What is the link?
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.
authors.affiliation: Katholieke Universiteit Leuven, Leuven, Belgium; Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Alix
authors.initials: A
authors.lastname: Lambrecht
authors.affiliation: Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Samia
authors.initials: S
authors.lastname: Pichard
authors.affiliation: Department of Child Neurology, Hôpital Bicêtre, APHP, Le Kremlin Bicêtre, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Maurey
authors.affiliation: Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Nuria Garcia
authors.initials: NG
authors.lastname: Segarra
authors.affiliation: Department of Genetics, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Séverine
authors.initials: S
authors.lastname: Drunat
authors.affiliation: Laboratory of Metabolic Biochemistry, HFME, HCL, Bron, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Acquaviva-Bourdain
authors.affiliation: Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Department of Genetics, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Passemard
authors.affiliation: Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Laboratory of Metabolic Biochemistry, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Benoist
authors.affiliation: Department of Genetics, Hôpital Robert Debré, APHP, Paris, France.
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Fauret-Amsellem
authors.affiliation: Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff
keywords: Angelman syndrome; Isovaleric acidemia; Uniparental disomy of chromosome 15