Biotindase deficiency

Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell.

Biotin, sometimes called vitamin B₇, is a nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Symptoms include: seizures, hypotonia and muscle/limb weakness, ataxia, paresis, hearing loss, optic atrophy, skin rashes (including seborrheic dermatitis and psoriasis), and alopecia. If left untreated, the disorder can rapidly lead to coma and death.