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Multiple carboxylase deficiency
Disease definition
A group of 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. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.
ORPHA:148
Classification level: Group of disorders- Synonym(s):
- MCD
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E53.8
- OMIM: -
- UMLS: C0026755
- MeSH: D009100
- GARD: -
- MedDRA: 10028176
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2011, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
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