Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency |
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Authors: | van Kuilenburg A B P Stroomer A E M Bosch A M Duran M |
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Institution: | Academic Medical Center, Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl |
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Abstract: | Dihydropyrimidinase (DHP) deficiency is an inborn error of the pyrimidine degradation pathway, affecting the hydrolytic ring opening of the dihydropyrimidines. In two siblings with a complete DHP deficiency and a variable clinical presentation, a normal concentration of beta-alanine and strongly decreased levels of beta-aminoisobutyric acid were observed in plasma, urine and CSF. No major differences were observed for the concentrations of the beta-amino acids in plasma and urine between the symptomatic and asymptomatic sibling. Thus, the relevance of the shortage of beta-aminoisobutyric acid for the onset of a clinical phenotype in patients with DHP deficiency remains to be established. |
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