Biotinidase deficiency is an inherited (genetic) condition that prevents the body from processing proteins, fats, and carbohydrates correctly. Biotinidase deficiency results when biotinidase is either missing or not made correctly. Without working biotinidase, the body cannot recycle enough biotin. Then, the enzymes that need biotin cannot work well. Without enough biotin, your baby has trouble making energy and getting rid of waste. Waste products from proteins, fats, and carbohydrates that are not completely broken down can be toxic at high levels.
Sample Type - Blood Spot
Reporting Time - 3 Hrs
Prerequisites - No special preparation required
Price - ₹680/-
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