Biotinidase Deficiency: Symptoms, Treatment For Low Biotinidase Levels

Biotinidase Deficiency Testing

Biotinidase deficiency is a genetic metabolic disorder in which the digestive system is unable to release biotin from the proteins in the diet. This results in the deficiency of Biotin which is also referred to as Vitamin B7. Biotin plays a crucial role in the metabolism of proteins, carbohydrates and fats and its deficiency is associated with severe metabolic and systemic problems

Biotinidase Deficiency Symptoms

The symptoms of biotinidase deficiency are observed within a few days after birth. The symptoms include,

  1. Seizures
  2. Hypotonia (i.e. poor muscle tone) associated with muscular weakness
  3. Ataxia and paresis
  4. Optic atrophy and hearing loss
  5. Rash on the skin in the form of dermatitis or psoriasis
  6. Hair loss (alopecia)

If the condition is not treated immediately, it can result to coma or death.

In some cases biotinidase deficiency may appear later in life and the symptoms are similar but mild. This condition is referred to as ‘late onset’ biotinidase deficiency

Biotinidase Deficiency Treatment

Biotinidase deficiency is completely treatable but it mandates an adherence to the dietary protocols. Consumption of 5-10 mg of biotin supplements are recommended each day.

In patients presenting with optic atrophy corrective lenses are required and in patients with hearing difficulty, use of hearing aids are a part of standard treatment regimen.

It is worthwhile to note that raw eggs should be avoided as raw eggs contain avidin which binds strongly with biotin and makes it unavailable for the body.

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