What is the treatment for biotin deficiency?

Treatment of Biotin Deficiency

All patients with confirmed biotin deficiency should receive lifelong pharmacological doses of biotin at 5-20 mg daily, which prevents symptom development in presymptomatic individuals and reverses clinical manifestations in symptomatic patients within hours to weeks. 1, 2

Treatment Algorithm by Clinical Presentation

For Profound Biotinidase Deficiency (<10% enzyme activity)

Initiate biotin 5-20 mg daily orally for life immediately upon diagnosis. 1, 2

• Seizures and ataxia resolve within hours to days of treatment initiation 1, 2
• Cutaneous manifestations (dermatitis, alopecia) resolve within weeks 1, 2
• Developmental milestones improve rapidly in children with prior delays, with many achieving new milestones or regaining lost ones depending on severity and frequency of prior metabolic crises 1
• Motor limb weakness and spastic paresis improve with consistent treatment 2

For Partial Biotinidase Deficiency (10-30% enzyme activity)

Treat all patients with partial deficiency with the same biotin dosing (5-20 mg daily) as profound deficiency. 1

• While initially considered benign, partial deficiency patients develop symptoms under metabolic stress (infection, starvation) that resolve with biotin therapy 1
• A large retrospective study of 120 partial deficiency patients identified by newborn screening supports long-term benefit of treatment 1
• Conservative treatment of all partial deficiency cases prevents symptoms in Km variants who have increased susceptibility to becoming symptomatic under metabolic stress 1

Route of Administration

Oral biotin is first-line for all patients with functional intestinal absorption. 3

• For malabsorption or short bowel syndrome: increase oral dose to 10 mg/day 3
• IV biotin (up to 200 mg/day for 2-3 weeks) is reserved exclusively for parenteral nutrition-dependent patients 3
• Standard maintenance in parenteral nutrition: 60 mcg/day 3

Critical Treatment Compliance Warning

Patients who discontinue biotin therapy—whether intentionally or unintentionally—develop symptoms within several weeks to months. 1, 2

• This underscores the absolute necessity of lifelong treatment 1, 2
• Adolescents and adults (ages 16-32) with profound deficiency identified by newborn screening and treated continuously demonstrate excellent outcomes 1

Laboratory Interference: Critical Safety Issue

Before ordering cardiac troponin or other biotin-streptavidin immunoassays, specifically ask patients about biotin supplement use. 2, 4

• High-dose biotin causes falsely low troponin levels that can lead to missed myocardial infarctions—a life-threatening diagnostic error 2, 4
• Discontinue biotin supplementation before testing when feasible 2, 4
• This interference affects multiple hormone assays using biotin-streptavidin technology 2, 4

Safety Profile

No upper limit for biotin intake has been established, and no adverse effects have been reported with oral or IV doses up to 5 mg/day for prolonged periods. 3

Special Populations

• Pregnancy: may require up to 300 mcg/day based on metabolic markers 3
• Breastfeeding: requires at least 35 mcg/day orally 3
• Renal replacement therapy: may require additional biotin supplementation 3

Monitoring Treatment Response

Expected biochemical improvements include resolution of:

• Metabolic ketoacidosis 1
• Lactic acidosis 1
• Hyperammonemia 1
• Elevated urinary 3-hydroxyisovaleric acid, 3-hydroxypropionic acid, and 3-methylcrotonylglycine 1
• Elevated plasma 3-hydroxyisovalerylcarnitine (C5-OH) 1

Note: These metabolic abnormalities are variable, and affected individuals do not always exhibit ketoacidosis or organic aciduria even when symptomatic 1