Holocarboxylase synthetase deficiency
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Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively.[2] 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.[citation needed]
Quick Facts Other names, Specialty ...
Holocarboxylase synthetase deficiency | |
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Other names | Early-onset multiple carboxylase deficiency[1] |
Biotin | |
Specialty | Medical genetics, endocrinology |
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