Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency (Q59572): Difference between revisions

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Latest 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.

Language	Label	Description	Also known as
default for all languages	ID_1184113045
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.