Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency (Q59572): Difference between revisions
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A deficiência da holocarboxilase sintetase é uma forma precoce de deficiência de carboxilase múltipla com risco de morte. É um erro inato do metabolismo da biotina, que, se não tratado, é caracterizado por vômitos, taquipneia, irritabilidade, letargia, dermatite esfoliativa e convulsões que pode piorar até chegar ao coma. | |||
| description / en | description / en | ||
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. | |||
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 |
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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. |
