Article
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
Biochimica et biophysica acta - 1 Jul 2012
van Kuilenburg André B P, Dobritzsch Doreen, Meijer Judith, Krumpel Michael, Selim Laila A, Rashed Mohamed S, Assmann Birgit, Meinsma Rutger, Lohkamp Bernhard, Ito Tetsuya, Abeling Nico G G M, Saito Kayoko, Eto Kaoru, Smitka Martin, Engvall Martin, Zhang Chunhua, Xu Wang, Zoetekouw Lida, Hennekam Raoul C M
Abstract excerpt
ß-ureidopropionase is the third enzyme of the pyrimidine degradation pathway and catalyzes the conversion of N-carbamyl-ß-alanine and N-carbamyl-ß-aminoisobutyric acid to ß-alanine and ß-aminoisobutyric acid, ammonia and CO(2). To date, only five genetically confirmed patients with a complete ß-ureidopropionase deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of...
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