ORPHA:293355
Methylmalonic acidemia without homocystinuria
Synonyms: Methylmalonic aciduria without homocystinuria
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- All ages
- Status
- active
Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylmalonic acidemia without homocystinuria | Methylmalonic aciduria without homocystinuria |
| fr | Acidémie méthylmalonique sans homocystinurie | Acidurie méthylmalonique sans homocystinurie |
| de | Methylmalonazidämie ohne Homocystinurie | Methylmalonazidurie ohne Homocystinurie |
| es | Acidemia metilmalónica sin homocistinuria | Aciduria metilmalónica sin homocistinuria |
| it | Acidemia metilmalonica | Acidemia metilmalonica senza omocistinuria · Aciduria metilmalonica · Aciduria metilmalonica senza omocistinuria |
| nl | Methylmalonacidurie zonder homocystinurie | Methylmalonacidemie zonder homocystinurie · Methylmalonzuuracidemie zonder homocystinurie · Methylmalonzuuracidurie zonder homocystinurie |
| pt | Acidemia metilmalónica | Acidemia metilmalónica sem homocistinúria · Acidúria metilmalónica · Acidúria metilmalónica sem homocistinúria |
| pl | Kwasica metylomalonowa bez homocystynurii | Acyduria metylomalonowa bez homocystynurii |
| cs | Methylmalonová acidemie bez homocystinurie | Methylmalonová acidurie bez homocystinurie |
| uk | Метилмалонової ацидемії без гомоцистинурії | Метилмалонова ацидурія без гомоцистинурії |
| zh | 不伴同型半胱氨酸尿症的甲基丙二酸血症 | 甲基丙二酸尿症不伴高胱氨酸尿症 |
| tr | Homosistinüri ile seyretmeyen metilmalonik asidemi | Homosistinüri olmaksızın metilmalonik asidüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17390 | E | validated | |
| UMLS | C5848400 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.0555 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293355
- This record as JSON: /data/d/293355.json