Article
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
Human molecular genetics - 15 Nov 2004
van Kuilenburg André B P, Meinsma Rutger, Beke Eva, Assmann Birgit, Ribes Antonia, Lorente Isabel, Busch Rebekka, Mayatepek Ertan, Abeling Nico G G M, van Cruchten Arno, Stroomer Alida E M, van Lenthe Henk, Zoetekouw Lida, Kulik Willem, Hoffmann Georg F, Voit Thomas, Wevers Ron A, Rutsch Frank, van Gennip Albert H
Abstract excerpt
beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. In this study, we report the elucidation of the genetic basis underlying a beta-ureidopropionase deficiency in four patients presenting with neurological abnormalities and strongly elevated levels of N-carbamyl-beta-alanine and...
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