TY - JOUR
T1 - A sensitive radioassay for biotinidase activity
T2 - deficient activity in tissues of serum biotinidase-deficient individuals
AU - Wolf, Barry
AU - McVoy, Julie Secor
N1 - Funding Information:
The authors thank Drs. R.J. Allen, S.I. Goodman, C.L. Kien and M. Batshaw for sending us fibroblasts and blood from patients, Sharon Suchy for her helpful discussions and suggestions, and Terry Mayo for her excellent secretarial assistance. This work was supported by grants from the National Institutes of Health (AM 25675) and from the National Foundation-March of Dimes (6-342). B.W. is the recipient of an NIH Research Career Development Award (AM 00677). This is paper No. 207 from the Department of Human Genetics of the Medical College of Virginia.
PY - 1983/12/30
Y1 - 1983/12/30
N2 - A new, sensitive radioassay for the determination of biotinidase activity was developed which measures the release of [14C-carboxylj-p-aminobenzoate fromN-biotinyl-[14C-carboxyl]-p-aminobenzoate. Biotinidase activity in serum from normal individuals is comparable to that determined by the colorimetric assay, but the radioassay is approximately 100 times more sensitive. Biotinidase deficiency was confirmed in the serum of patients who were previously shown to have reduced activities by the colorimetric assay. Although biotinidase activity was not detectable in extracts of normal peripheral blood leukocytes and fibroblasts using the colorimetric assay, activities could be measured by the radioassay. Using this method we demonstrated deficient biotinidase activity in extracts of leukocytes and fibroblasts from affected patients.
AB - A new, sensitive radioassay for the determination of biotinidase activity was developed which measures the release of [14C-carboxylj-p-aminobenzoate fromN-biotinyl-[14C-carboxyl]-p-aminobenzoate. Biotinidase activity in serum from normal individuals is comparable to that determined by the colorimetric assay, but the radioassay is approximately 100 times more sensitive. Biotinidase deficiency was confirmed in the serum of patients who were previously shown to have reduced activities by the colorimetric assay. Although biotinidase activity was not detectable in extracts of normal peripheral blood leukocytes and fibroblasts using the colorimetric assay, activities could be measured by the radioassay. Using this method we demonstrated deficient biotinidase activity in extracts of leukocytes and fibroblasts from affected patients.
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U2 - 10.1016/0009-8981(83)90286-3
DO - 10.1016/0009-8981(83)90286-3
M3 - Article
C2 - 6661819
AN - SCOPUS:0021014175
SN - 0009-8981
VL - 135
SP - 275
EP - 281
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 3
ER -