ORPHA:6
3-methylcrotonyl-CoA carboxylase deficiency
Synonyms: 3-methylcrotonylglycinuria · MCC deficiency · MCCD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-methylcrotonyl-CoA carboxylase deficiency | 3-methylcrotonylglycinuria · MCC deficiency · MCCD |
| fr | Déficit en 3-méthylcrotonyl-CoA carboxylase | 3-méthylcrotonyl glycinurie · Déficit en MCC · MCCD |
| de | 3-Methylcrotonyl-CoA-Carboxylase-Mangel | 3-Methylcrotonylglycinurie · MCC-Mangel · MCCD |
| es | Deficiencia de 3-metilcrotonil-CoA carboxilasa | 3-metilcrotonil glicinuria · Deficiencia de MCC · MCCD |
| it | Deficit di 3-metilcrotonil-CoA carbossilasi | 3-metilcrotonilglicinuria · Deficit di MCC · MCCD |
| nl | Deficiëntie van 3-methylcrotonyl-CoA-carboxylase | MCC-deficiëntie · MCCD · 3-MCC-deficiëntie · 3-methylcrotonylglycinurie |
| pt | Deficiência de 3-metilcrotonil-CoA carboxilase | 3-metilcrotonilglicinúria · Deficiência de MCC · MCCD |
| pl | Izolowany deficyt karboksylazy 3-metylokrotonylo-CoA | 3-metylokrotonyloglicynuria · MCCD · Niedobór MCC |
| cs | Deficit 3-methylcrotonyl-CoA karboxylázy | 3-methylcrotonylglycinurie · MCC deficit · MCCD |
| uk | Дефіцит 3-метилкротоніл-КоА карбоксилази | 3-метилкротонілгліцинурія · Дефіцит MCC · MCCD |
| zh | 3-甲基巴豆酰辅酶a羧化酶缺乏症 | 甲基巴豆酰甘氨酸尿症 |
| tr | 3-metilkrotonil-CoA karboksilaz eksikliği | MCCD · MM eksikliği · 3-metilkrotonyglisinüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210200 | BTNT | validated | |
| OMIM | 210210 | BTNT | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0018950 | E | validated | |
| MeSH | C535308 | E | validated | |
| UMLS | C4551505 | E | validated | |
| GARD | 10954 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MCCC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6936 | ENSG00000078070 | 609010 | 3q27.1 | methylcrotonyl-CoA carboxylase subunit 1 | 22642865[PMID]_22264772[PMID] |
| MCCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6937 | ENSG00000131844 | 609014 | 5q13.2 | methylcrotonyl-CoA carboxylase subunit 2 | 22642865[PMID]_22264772[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.65 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | United States | Value and class | Validated | 12872837[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.3 / 100 000 | Germany | Value and class | Validated | 11170888[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.36 / 100 000 | Taiwan, Province of China | Value and class | Validated | 20567911[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Europe | 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.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004357 | Abnormality of leucine metabolism | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0001992 | Organic aciduria | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001987 | Hyperammonemia | |
| Occasional (29-5%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001257 | Spasticity | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/6
- This record as JSON: /data/d/6.json