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单词 Holocarboxylase synthetase deficiency
释义

Holocarboxylase synthetase deficiency

英语百科

Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency has an autosomal recessive pattern of inheritance.


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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更新时间:2025/6/19 2:01:32