Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals

Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn

“…By complete deficiency we mean no measurable enzyme activity; we do not know whether our probands had total absence of biotinidase protein in serum, as is the usual case (Wolf et al, 1987). Absence of disease m our probands may be an effect of the early treatment with biotin.…”

Biotinidase deficiency and our champagne legacy

“…We and others purified human biotinidase to homogeneity from plasma [61]. The enzyme is a monomeric sialylated glycoprotein with a molecular weight of 76-77,000 daltons [62].…”

“…Using polyclonal antibody to purified human biotinidase [61], we were able to characterize the isoform properties of biotinidase in individuals with normal biotinidase activity [62], in individuals with profound deficiency [63] and ultimately with partial deficiency [64].…”

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

“…3,10,11 Normal serum or plasma biotinidase is a monomeric sialylated glycoprotein with a molecular mass of 76-77 kDa. The enzyme has at least nine isoforms (four major and five minor) between pH 4.15 and 4.35 as observed by isoelectric focusing.…”

“…Glycosylation of the protein could increase its mass by 13 to 19 kDa; the molecular mass of the glycosylated enzyme is estimated to be between 70 and 76 kDa, which is consistent with that of the reported glycosylated serum enzyme. 3,10,11,13 Most of the microheterogeneity observed on isoelectric focusing results from differences in the degree of sialylation.…”