A qualitative assessment of biotinidase deficiency

D D Bankson, R P Martin, D T Forman
Annals of Clinical and Laboratory Science  
Screening programs for late-onset, biotin-responsive, multiple carboxylase deficiency (LMCD) detect colormetrically the presence of biotinidase activity in dried samples of whole-blood spotted on filter-papers as used in the neonatal screening of phenylketonuria. A sensitive and stable qualitative technique is described using 10 microliter of serum that avoids problems associated with poor sample collection, improper drying of blood-spots and transient color development. The modified assay is
more » ... modified assay is timely and suitable for the clinical laboratory not involved in mass screening programs.
pmid:3500673 fatcat:j4unqzfrknej5fmqxpjzz7adci