Multiple carboxylase deficiency (Q63447)
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Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency and holocarboxylase synthetase deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1133091451 |
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| English | Multiple carboxylase deficiency |
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency and holocarboxylase synthetase deficiency. |
