A qualitative assessment of biotinidase deficiency.
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.
D010129:4-Aminobenzoic Acid / Q000097:blood; D000581:Amidohydrolases / Q000097:blood / Q000172:deficiency*; D043523:Biotinidase; D001800:Blood Specimen Collection; D003124:Colorimetry; D005029:Ethylenediamines; D005069:Evaluation Studies as Topic; D005189:False Positive Reactions; D006801:Humans; D007202:Indicators and Reagents; D007231:Infant, Newborn; D008403:Mass Screening / Q000191:economics; D010209:Paper
D005029:Ethylenediamines; D007202:Indicators and Reagents; C008588:N-(1-naphthyl)ethylenediamine; D000581:Amidohydrolases; D043523:Biotinidase; D010129:4-Aminobenzoic Acid