Table 5.

Biotinidase Deficiency: Targeted Treatment

Targeted TreatmentDegree of Enzyme DeficiencyDosage in Infants/Children 1, 2Considerations
Oral biotin 3 Profound (<10% mean normal serum enzyme activity)5-10 mg/day
  • Biotin is usually dispensed as a tablet or a capsule (most of which is filler: the quantity of biotin is minute relative to the quantity of filler). 4, 5
  • To administer biotin to an infant or young child, the tablet can be crushed or the contents of the capsule can be mixed with breast milk or formula in a spoon, medicine dispenser, or syringe. 6
Partial 7 (10%-30% of mean normal serum enzyme activity)2.5-10 mg/day
  • Because there is no known toxicity for biotin, children w/partial biotinidase deficiency are usually treated.
  • Different perspectives on biotin treatment exist; some centers treat partial biotinidase deficiency for only the first few months of life, while other centers do not treat partial biotinidase deficiency at all. The author recommends treatment for life [Wolf 2015b].
1.

More data are required to determine the dosage of biotin that is necessary for older children with either profound or partial biotinidase deficiency, but essentially all children have tolerated 10 mg/day of oral biotin with no side effects.

2.

Anecdotally, two girls with profound biotinidase deficiency developed hair loss during adolescence that resolved following an increase of their biotin dosages from 10 mg/day to 15 or 20 mg/day.

3.

There are no known adverse side effects from pharmacologic doses of biotin.

4.

Although biotin occasionally is dispensed as a solution or syrup, these liquid preparations are not recommended because the mixture – which is a suspension – tends to settle (especially upon refrigeration) and to grow bacteria upon storage.

5.

The liquid preparations usually do not provide a consistent dose and should not be added to milk in a bottle.

6.

The contents of the tablet or capsule should not be put into a bottle because the mixture will stick to the bottle and/or fail to pass through the nipple, thus delivering inconsistent doses.

7.

Only a few anecdotal reports exist regarding symptoms in children with partial biotinidase deficiency who were not treated with biotin.

From: Biotinidase Deficiency

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