Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency (Q59572): Difference between revisions
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Revision as of 07:05, 14 August 2026
Holocarboxylase synthetase deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterised by vomiting, tachypnoea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.
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| default for all languages | ID_1184113045 |
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| English | Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency |
Holocarboxylase synthetase deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterised by vomiting, tachypnoea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. |
