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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“It is easier to discover a deficiency in individuals, in states, and in Providence, than to see their real import and value.”
—Georg Wilhelm Friedrich Hegel (17701831)
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