Article
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
American journal of human genetics - 1 Dec 2004
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
Abstract excerpt
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...
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