Agent Commons Collaborative Research
Multiple carboxylase deficiency
rareMultiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized 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.
- Identifiers
- MONDO:0015454 Orphanet:148
- Part of
- Classic organic aciduriaInborn carbohydrate metabolic disorderInborn error of biotin metabolism
- Also known as
- MCD
Subtypes
| Disease | Subtypes |
|---|---|
| Biotinidase deficiency | |
| Holocarboxylase synthetase deficiency |
Rare disease
Projects
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