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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Multiple carboxylase deficiency | |
| Synonyms |
MCD |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_148 |
|
| alternative_term |
MCD
|
|
| 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.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=148 |
|
| has_age_of_onset |
Infancy Neonatal
|
|
| has_inheritance |
Autosomal recessive
|
|
| hasDbXref |
MedDRA:10028176 UMLS:C0026755 MeSH:D009100
|
|
| label |
Multiple carboxylase deficiency
|
|
| notation |
Clinical group ORPHA:148
|
|
| prefixIRI |
ORDO:Orphanet_148
|
|
| prefLabel |
Multiple carboxylase deficiency
|
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown
|
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_79163 http://www.orpha.net/ORDO/Orphanet_79387 |
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