Multiple carboxylase deficiency due to biotinidase deficiency (Q86004): Difference between revisions
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A deficiência de biotinidase é uma forma de início tardio de deficiência múltipla de carboxilase. É um erro inato do metabolismo da biotina que, se não tratado, é caracterizado por convulsões, dificuldades respiratórias, hipotonia, erupção cutânea, alopecia, perda auditiva e atraso do desenvolvimento. | |||
| description / en | description / en | ||
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterised by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. | |||
Revision as of 11:22, 15 August 2026
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterised by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1336432647 |
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| English | Multiple carboxylase deficiency due to biotinidase deficiency |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterised by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
