Biotinidase, Quantitative, Dried Blood Spot

Biotin, an essential water-soluble B vitamin, is the coenzyme for four carboxylases in humans. These carboxylases are involved in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. In its action as a coenzyme, biotin becomes covalently attached to these carboxylases. Biotinidase, a hydrolase, is needed to free biotin from this complex and make it ready for reutilisation. Biotinidase deficiency is an autosomal recessively inherited trait resulting in carboxylase deficiency and the accumulation of toxic metabolites.

Untreated individuals with biotinidase deficiency may exhibit seizures, hypotonia, ataxia, developmental delay, hearing loss, ophthalmologic abnormalities, alopecia, skin rash, ketolactic acidosis, and organic aciduria, which may result in coma. Early diagnosis and treatment of biotinidase deficiency are important to prevent permanent neurological damage.

2 ml Serum Frozen

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