Biotinidase Deficiency

Biotinidase deficiency is a disorder of biotin recycling.  Biotin is a B vitamin which is not synthesized by the body.  It is a dietary requirement which bonds with certain apocarboxylases for activation and is vital for gluconeogenesis, fatty acid synthesis and amino acid catabolism.  Biotinidase recycles biotin by releasing the bound biotin from short peptide chains or biocytin.  In the absence of biotinidase, the biotin is not released or recycled.  The lack of biotin causes clinical features of seizures, skin rash, hypotonia, alopecia, conjunctivitis, developmental delay and ataxia.

Enzymatic reaction time-resolved fluorescence assay to determine Biotinidase activity.