Multiple carboxylase deficiency due to biotinidase deficiency (Q86004)
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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 |
|---|---|---|---|
| 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. |
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CID11:ID_1336432647
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dki-india-ID_1336432647
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