ORPHA:289916
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Synonyms: Complete deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut0
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Vitamin B12-unresponsive methylmalonic acidemia type mut0 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 mut0 | Complete deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut0 |
| fr | Acidémie méthylmalonique résistante à la vitamine B12 type mut0 | Acidurie méthylmalonique résistante à la vitamine B12 type mut0 · Déficit complet en méthymalonyl-CoA mutase |
| de | Methylmalonazidämie, Vitamin B12-resistente, Typ mut0 | Methylmalonazidurie, Vitamin B12-unabhängige, Typ mut 0 · Methylmalonyl-CoA-Mutase-Mangel, kompletter |
| es | Acidemia metilmalónica resistente a la vitamina B12 tipo mut 0 | Aciduria metilmalónica resistente a la vitamina B12 tipo mut 0 · Deficiencia completa de metilmalonil-CoA mutasa |
| it | Acidemia metilmalonica refrattaria alla vitamina B12, tipo mut0 | Aciduria metilmalonica refrattaria alla vitamina B12, tipo mut0 · Deficit completo di metilmalonil-CoA mutasi |
| nl | Vitamine B12-resistente methylmalonacidemie, type mut0 | Vitamine B12-resistente methylmalonacidurie type mut0 · Vitamine B12-resistente methylmalonzuuracidemie, type mut0 · Vitamine B12-resistente methylmalonzuuracidurie, type mut0 · Volledige deficiëntie van methylmalonyl-CoA-mutase |
| pt | Acidemia metilmalónica refratária à vitamina B12 tipo mut0 | Acidemia metilmalónica refratária à vitamina B12 tipo mut 0 · Acidúria metilmalónica refratária à vitamina B12 tipo mut 0 · Deficiência completa de metilmalonil-CoA epimerase · Deficiência completa de metilmalonil-CoA mutase · Deficiência completa de metilmalonil-CoA racemase |
| pl | Kwasica metylomalonowa typu mut0 niewrażliwa na witaminę B12 | Acyduria metylomalonowa typu mut0 niewrażliwa na witaminę B12 · Całkowity Niedobór mutazy metylomalonylo-CoA |
| cs | Methylmalonová acidemie, typ mut0, non-responzivní na vitamin B12 | Úplný deficit methylmalonyl-CoA mutázy |
| uk | Метилмалонова ацидемія, не чутлива до вітаміну В12, тип mut0 | Повна недостатність метилмалоніл-КоА мутази · Метилмалонова ацидурія, що не реагує на вітамін В12, тип мут0 |
| zh | 维生素B12-无反应性甲基丙二酸血症mut0型 | 维生素B12-无反应性甲基丙二酸血症mut0型 |
| tr | B12 vitaminine-yanıtsız metilmalonik asidemi tipi mut0 | Metilmalonil-KoA mutaz tam eksikliği · B12 vitamini-tepkisiz metilmalonik asidüri tip mut0 |
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 | 0017360 | E | validated | |
| UMLS | C0342718 | 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 | 20301409[PMID] |
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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.
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HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001259 | Coma | |
| HP:0001510 | Growth delay | |
| HP:0001254 | Lethargy | |
| HP:0002017 | Nausea and vomiting | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002098 | Respiratory distress | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001332 | Dystonia | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001987 | Hyperammonemia | |
| HP:0000648 | Optic atrophy | |
| HP:0001733 | Pancreatitis | |
| HP:0000083 | Renal insufficiency | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0100806 | Sepsis | |
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/289916
- This record as JSON: /data/d/289916.json