Lambrecht Alix, Pichard Samia, Maurey Hélène, Segarra Nuria Garcia, Drunat Séverine, Acquaviva-Bourdain Cécile, Passemard Sandrine, Benoist Jean-François, Fauret-Amsellem Anne-Laure, Schiff Manuel
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.
Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
Mol Genet Metab Rep. 2015 Mar 30;3:36-8. doi: 10.1016/j.ymgmr.2015.03.004. eCollection 2015 Jun.
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.
我们报告了一名患有天使综合征和异戊酸血症（IVA）的幼儿。这种关联是由于15号染色体的父源单亲二体性（UPD），先证者继承了IVA基因点突变的两个父源拷贝。由于这两种疾病都可能对神经发育产生严重影响，因此应讨论对IVA的适当治疗。然而，在我们的患者中，鉴定出的变异可能导致无症状有机酸尿症。这些发现强调，父源15号染色体UPD很少会导致天使综合征与潜在可治疗的先天性代谢缺陷同时出现。
