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 ß-alanine and strongly decreased levels of ß-aminoisobutyric acid were observed in plasma, urine and CSF. No major differences were observed for the concentrations of the ß-amino acids in plasma and urine between the symptomatic and asymptomatic sibling. Thus, the relevance of the shortage of ß-aminoisobutyric acid for the onset of a clinical phenotype in patients with DHP deficiency remains to be established.
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