Hn Nh

Lys O BCCP Figure 28.40 • Coenzyme form of biotin.

the case of two identified genetic disorders. Holocarbo-xylase deficiency is a genetic disorder of biotin-(propionyl-CoA-carboxylase [ATP-hydrolysing]) ligase, the enzyme responsible for the terminal step incorporating biotin into the apoenzyme. Biotinidase (EC deficiency is a genetic disorder of the amidase that releases biotin from the apoenzyme and allows it to be recycled. Both of these lead to multiple carboxylase deficiency (MCD), a condition marked by decreased activity of all biotin-dependent car-boxylases and both respond, at least partially, to large doses of biotin.197 The symptoms of biotin deficiency include dermatitis, conjunctivitis, alopecia, and CNS abnormalities including behavioral, developmental, and psychological effects.198

Was this article helpful?

0 0
Wake Up Now

Wake Up Now

For Those Who Can’t Wake Up On Time And Fatigue Throughout The Day. Now You Can Wake Up Early And Be Super Energetic Everyday.

Get My Free Ebook

Post a comment