1 doctor weighed in:
What labs are drawn with biotinidase deficiency and what do they mean?
1 doctor weighed in

Dr. Joseph Bouvier
Pediatrics
In brief: See below
Usually when biotinidase deficiency is suspected, an inborn error of metabolism is suspected and multiple labs are drawn as the general symptoms are similar to may other inborn errors of metabolism. Labs including, serum ammonia, urine organic acids, plasma amino acids urine ketones, blood gas, serum chemistries, biotinidase, carnitine, and acylcarnitine profiles are drawn.
Results will vary.

In brief: See below
Usually when biotinidase deficiency is suspected, an inborn error of metabolism is suspected and multiple labs are drawn as the general symptoms are similar to may other inborn errors of metabolism. Labs including, serum ammonia, urine organic acids, plasma amino acids urine ketones, blood gas, serum chemistries, biotinidase, carnitine, and acylcarnitine profiles are drawn.
Results will vary.
Dr. Joseph Bouvier
Dr. Joseph Bouvier
Thank
Get help from a real doctor now
Dr. Eric Weisman
Board Certified, Neurology
32 years in practice
9M people helped
Continue
108,000 doctors available
Read more answers from doctors