Article
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Molecular genetics and metabolism - 1 Jul 2022
Dobritzsch Doreen, Meijer Judith, Meinsma Rutger, Maurer Dirk, Monavari Ardeshir A, Gummesson Anders, Reims Annika, Cayuela Jorge A, Kuklina Natalia, Benoist Jean-François, Perrin Laurence, Assmann Birgit, Hoffmann Georg F, Bierau Jörgen, Kaindl Angela M, van Kuilenburg André B P
Abstract excerpt
β-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and catalyses the conversion of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid to β-alanine and β-aminoisobutyric acid, ammonia and CO2. To date, only a limited number of genetically confirmed patients with a complete β-ureidopropionase deficiency have been reported. Here, we report on the clinical, biochemical and molecular...
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