Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.
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.
van Kuilenburg
A B P
AB
Academic Medical Center, Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl
Stroomer
A E M
AE
Bosch
A M
AM
Duran
M
M
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
D000621:Aminoisobutyric Acids; D015091:beta-Alanine; D000581:Amidohydrolases; C020047:dihydropyrimidinase