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Article

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Journal of human genetics - 1 Mar 2017

Couce María L, Aldamiz-Echevarría Luís, Bueno María A, Barros Patricia, Belanger-Quintana Amaya, Blasco Javier, García-Silva María-Teresa, Márquez-Armenteros Ana M, Vitoria Isidro, Vives Inmaculada, Navarrete Rosa, Fernández-Marmiesse Ana, Pérez Belén, Pérez-Cerdá Celia

Abstract excerpt

Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. Evaluated at diagnosis, data included age, detection method, levels of C5 and IVG, enzymatic studies, clinical presentation parameters and genotype in 16 patients. Follow-up data included C5 levels,...

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PMID: 27904153
DOI: 10.1038/jhg.2016.144

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