Biotin Dosing for Biotinidase Deficiency in Children
Children with biotinidase deficiency should receive 5-10 mg of biotin daily orally for lifelong treatment, with this dose preventing all symptoms when started early and reversing clinical manifestations within hours to days when started after symptom onset. 1
Standard Treatment Dose
- The recommended dose is 5-10 mg/day orally for lifelong therapy in children with profound biotinidase deficiency (enzyme activity <10% of normal). 2, 3
- The American College of Medical Genetics guidelines specify a range of 5-20 mg daily, though the lower end of this range (5-10 mg/day) is typically sufficient for profound deficiency. 1, 2
- Treatment must be continued for life, as discontinuation leads to symptom recurrence within weeks to months. 1, 3
Clinical Response Timeline
- Seizures and ataxia resolve within hours to days of initiating biotin therapy. 1, 3
- Cutaneous manifestations (rash, alopecia) typically resolve within weeks. 1
- Metabolic abnormalities (ketoacidosis, organic aciduria) normalize rapidly with treatment. 1
- Developmental milestones may be rapidly achieved or regained if treatment is started before irreversible damage occurs. 1
Critical Treatment Principles
Early initiation is essential because hearing loss, visual abnormalities, and developmental delay become irreversible once they occur, even with subsequent biotin therapy. 1, 3
The dose of 10-20 mg/day has been used successfully in multiple case series and screening programs with excellent outcomes and no adverse effects. 4, 5, 6
Partial Biotinidase Deficiency
- For partial deficiency (10-30% enzyme activity), the same dose of 5-10 mg/day is recommended, as some children develop symptoms during metabolic stress (infection, starvation). 1, 2
- A conservative approach treating all individuals with partial deficiency is recommended to prevent symptoms during periods of metabolic stress. 2
Safety Profile
- Biotin has an excellent safety record with no documented toxicity in children at therapeutic doses. 7
- Doses up to 20 mg/day have been used long-term in screening programs with no adverse effects reported. 5
- The only clinical consideration is that patients taking >5 mg/day should discontinue biotin for at least 72 hours before laboratory testing due to interference with immunoassays. 2
Special Dosing Scenarios
For children who present with severe symptoms or delayed diagnosis, some clinicians have used higher initial doses (15-40 mg/day) with subsequent reduction to maintenance dosing of 10 mg/day once symptoms resolve. 4, 6