Frequency
Sex
If treated promptly with free biotin supplementation, patients with biotinidase deficiency can be without clinical sequelae. The prognosis is excellent if therapy is started early, before the onset of clinical symptoms. Lifelong oral treatment with free biotin is required.
Profound biotinidase deficiency (< 10% mean normal serum enzyme activity) typically presents within the first 6 months of life, although the age of onset can vary. [17, 18] The age range of symptom presentation is from the first week of life through age 10 years, with the mean age of onset at age 3.5 months.
Mortality/Morbidity
Age
Profound biotinidase deficiency has an incidence of about 1 per 137,400 population; partial biotinidase deficiency affects about 1 per 110,000 population. The combined overall incidence of profound and partial deficiencies is about 1 per 61,000 population.
Males and females are equally affected, as the genetic etiology is autosomal recessive. Two copies of the altered BTD gene are required.
