Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency
Other namesEarly-onset multiple carboxylase deficiency
Biotin
SpecialtyMedical genetics, endocrinology 

Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. Symptoms are very similar to biotinidase deficiency and treatment – large doses of biotin – is also the same.

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