Biotinidase Deficiency Treatment & Management

Updated: Jul 27, 2018
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Medical Care

Therapy for biotinidase deficiency is oral biotin, typically prescribed at a starting dose of 5-10 mg/d. Treatment is with free biotin. Bound biotin contained in oral multivitamin supplements does not treat the body deficiency.

Some patients require higher daily doses of free biotin. If the enzymatic defect is present but a healthy clinical response does not occur with lower doses, a high-dose therapy is considered (up to 40 mg/d).

Treatment with free biotin is lifelong in patients with profound deficiency. Patients with a partial deficiency (10%-25% activity remaining) may not require lifelong treatment. Both patient populations, however, require knowledgeable continuity of care to address ongoing medical care and treatment approach.

Children with residual neurologic disease may require medical interventions for developmental delay, spasticity, and bulbar dysfunction, in addition to oral biotin treatment. Spasticity and dystonia associated with inborn errors of metabolism have been treated with intrathecal baclofen and neurotoxins. [30]



A pediatric neurologist, metabolic disorder specialist, and geneticist should assist in the patient’s workup and evaluation. [31]

A pediatric neurologist and a pediatrician skilled in the evaluation of a child who is delayed and neurologically impaired should establish continuity of care and perform follow-up examinations, as well as procedures to document residual neurological insult. Children with residual neurologic injury as noted with spasticity or dystonia should receive ongoing physical therapy to prevent long-term orthopedic deterioration.

A medical genetics team, including a genetic counselor, should be referred to explain the genetics of biotinidase deficiency and to offer support and resources to patients and family members.