A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening |
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| Authors: | Ensenauer Regina Vockley Jerry Willard Jan-Marie Huey Joseph C Sass Jörn Oliver Edland Steven D Burton Barbara K Berry Susan A Santer René Grünert Sarah Koch Hans-Georg Marquardt Iris Rinaldo Piero Hahn Sihoun Matern Dietrich |
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| Affiliation: | Department of Laboratory Medicine & Pathology, Division of Clinical Epidemiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. regina.ensenauer@med.uni-muenchen.de |
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| Abstract: | Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diagnosed presymptomatically. Molecular genetic analysis of the IVD gene for 19 subjects whose condition was detected through NBS led to the identification of one recurring mutation, 932C-->T (A282V), in 47% of mutant alleles. Surprisingly, family studies identified six healthy older siblings with identical genotype and biochemical evidence of IVA. Our findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA. This has significant consequences for patient management and counseling. |
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