ORPHA:79312
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Synonyms: Partial deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut-
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vitamin B12-unresponsive methylmalonic acidemia type mut- | Partial deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut- |
| fr | Acidémie méthylmalonique isolée résistante à la vitamine B12 type mut- | Acidurie méthylmalonique résistante à la vitamine B12 type mut- · Déficit partiel en méthylmalonyl-CoA mutase |
| de | Methylmalonazidämie, Vitamin B12-resistente, Typ mut- | Methylmalonazidurie, Vitamin B12-unabhängige, Typ mut- · Methylmalonyl-CoA-Mutase, partieller Mangel |
| es | Acidemia metilmalónica resistente a la vitamina B12 tipo mut- | Aciduria metilmalónica resistente a la vitamina B12 tipo mut- · Deficiencia parcial de metilmalonil-CoA mutasa |
| it | Acidemia metilmalonica resistente alla vitamina B12, tipo mut- | Aciduria metilmalonica resistente alla vitamina B12, tipo mut- · Deficit parziale di metilmalonil-CoA mutasi |
| nl | Vitamine B12-resistente methylmalonacidemie type mut- | Partiële deficiëntie van methylmalonyl-CoA-mutase · Vitamine B12-resistente methylmalonacidurie type mut- · Vitamine B12-resistente methylmalonzuuracidemie type mut- · Vitamine B12-resistente methylmalonzuuracidurie type mut- |
| pt | Acidemia metilmalónica sensível à vitamina B12 tipo mut- | |
| pl | Kwasica metylomalonowa nie reagująca na witaminę B12 typu mut- | Acyduria metylomalonowa nie reagująca na witaminę B12 typu mut- · Częściowy Niedobór mutazy metylomalonylo-CoA |
| cs | Methylmalonová acidémie nonresponsivní na vitamin B12, typ mut- | Parciální deficit methylmalonyl-CoA-mutázy · Methylmalonová acidurie nonresponsivní na vitamin B12, typ mut- |
| uk | Метилмалоновий ацидоз, що не чутливий до вітаміну В12, тип mut- | Частковий дефіцит метилмалоніл-КоА мутази · Метилмалонова ацидурія, що не реагує на вітамін В12, тип mut- |
| zh | 维生素B12无反应性甲基丙二酸血症变异型 | 维生素B12 -无反应性甲基丙二酸尿变异型 |
| tr | B12 vitaminine-tepkisiz metilmalonik asidemi tipi mut- | Metilmalonil-CoA mutazının kısmi eksikliği · B12 vitamini-yanıtsız metilmalonik asidüri tipi mut- |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251000 | NTBT | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0019267 | E | validated | |
| UMLS | C0342719 | 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:27Vitamin B12-unresponsive methylmalonic acidemia
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMUT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7526 | ENSG00000146085 | 609058 | 6p12.3 | methylmalonyl-CoA mutase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 450 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0001259 | Coma | |
| HP:0001944 | Dehydration | |
| HP:0001508 | Failure to thrive | |
| HP:0001987 | Hyperammonemia | |
| HP:0001254 | Lethargy | |
| HP:0002098 | Respiratory distress | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0002721 | Immunodeficiency | |
| HP:0001249 | Intellectual disability | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100022 | Abnormality of movement | |
| HP:0001903 | Anemia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001266 | Choreoathetosis | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002240 | Hepatomegaly | |
| HP:0000648 | Optic atrophy | |
| HP:0001733 | Pancreatitis | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0001297 | Stroke | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79312
- This record as JSON: /data/d/79312.json