Holocarboxylase Synthetase Deficiency


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.

Read more about Holocarboxylase Synthetase Deficiency:  Diagnosis, Genetics

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