A member asked:

What labs are drawn with biotinidase deficiency and what do they mean?

A doctor has provided 1 answer
Dr. Joseph Bouvier answered

Specializes in Pediatrics

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.

Answered 8/30/2013

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