Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency

Abstract

Measurements of blood and urine biotin levels have been performed during treatment of a patient with holocarboxylase synthetase deficiency. During the first 24 hours of therapy, the infant progressed from a moribund, shock-like state to a clinically normal baby. Urinary biotin concentration increased more than 100-fold after 12 hours of treatment. Within 48 hours of treatment, blood biotin levels were greater than 10 times control levels. On the basis of the data presented, it is suggested that therapeutic blood levels of biotin can be achieved by enteral administration of 10 mg of biotin per day.