Multiple carboxylase deficiency due to biotinidase deficiency (Q86004): Difference between revisions
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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.
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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. |
