title: Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.
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.
authors.affiliation: Academic Medical Center, Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl
authors.forename: A B P
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: A E M
authors.initials: AE
authors.lastname: Stroomer
authors.forename: A M
authors.initials: AM
authors.lastname: Bosch
authors.forename: M
authors.initials: M
authors.lastname: Duran
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D000621:Aminoisobutyric Acids / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism* / Q000652:urine; D006801:Humans; D035781:Siblings; D015091:beta-Alanine / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism* / Q000652:urine
chemical_list: D000621:Aminoisobutyric Acids; D015091:beta-Alanine; D000581:Amidohydrolases; C020047:dihydropyrimidinase