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Annals of clinical and laboratory science

A qualitative assessment of biotinidase deficiency.


PMID 3500673

Abstract

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 timely and suitable for the clinical laboratory not involved in mass screening programs.