Multiple carboxylase deficiency
Synonyms: MCD
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple carboxylase deficiency | MCD |
| fr | Déficit multiple en carboxylases | = en |
| de | Multipler Carboxylase-Mangel | |
| es | Deficiencia múltiple de carboxilasas | |
| it | Deficit multiplo di carbossilasi | = en |
| nl | Meervoudige carboxylasedeficiëntie | MCD · Multipele carboxylasedeficiëntie |
| pt | Deficiência múltipla de carboxilases | |
| pl | Mnogi Niedobór karboksylazy | = en |
| cs | Mnohočetný karboxylázový deficit | = en |
| uk | Дефіцит множинної карбоксилази | = en |
| zh | 多种羧化酶缺乏症 | = en |
| tr | Çoklu karboksilaz eksikliği | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015454 | E | validated | |
| MONDO | 15454 | E | validated | |
| MeSH | D009100 | E | validated | |
| UMLS | C0026755 | E | validated | |
| GARD | 3824 | E | validated | |
| MedDRA | 10028176 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79387Metabolic disease with skin involvement
rare genetic diseases - ORPHA:79217Other metabolic disease with skin involvement
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/148
- This record as JSON: /data/d/148.json