ORPHA:27
Vitamin B12-unresponsive methylmalonic acidemia
Synonyms: Methylmalonyl-CoA mutase deficiency · Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: <i>mut0</i> and <i>mut-</i>.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vitamin B12-unresponsive methylmalonic acidemia | Methylmalonyl-CoA mutase deficiency · Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria |
| fr | Acidémie méthylmalonique résistante à la vitamine B12 | Acidurie méthylmalonique résistante à la vitamine B12 · Déficit en méthylmalonyl-CoA mutase · Déficit en méthylmalonyl-Coenzyme A mutase |
| de | Methylmalonazidämie, Vitamin B12-resistente | Methylmalonazidurie, Vitamin B12-unabhängige · Methylmalonyl-CoA-Mutase-Mangel · Methylmalonyl-Coenzym A-Mutase-Mangel |
| es | Acidemia metilmalónica resistente a la vitamina B12 | Aciduria metilmalónica resistente a la vitamina B12 · Deficiencia de metilmalonil coenzima A mutasa · Deficiencia de metilmalonil-CoA mutasa |
| it | Acidemia metilmalonica resistente alla vitamina B12 | Aciduria metilmalonica resistente alla vitamina B12 |
| nl | Vitamine B12-resistente methylmalonacidemie | Methylmalonyl-Co-enzym A-mutasedeficiëntie · Methylmalonyl-CoA-mutasedeficiëntie · Vitamine B12-resistente methylmalonacidurie · Vitamine B12-resistente methylmalonzuuracidemie · Vitamine B12-resistente methylmalonzuuracidurie |
| pt | Acidemia metilmalónica refratária à vitamina B12 | Acidúria metilmalónica refratária à vitamina B12 · Deficiência de metilmalonil-coenzima A epimerase · Deficiência de metilmalonil-coenzima A mutase |
| pl | Kwasica metylomalonowa niereagująca na witaminę B12 | Acyduria metylomalonowa niereagująca na witaminę B12 |
| cs | Vitamin B12-neresponzivní metylmalonová acidémie | Vitamin B12-neresponzivní metylmalonová acidurie |
| uk | Метилмалонова ацидемія, не чутлива до вітаміну В12 | Дефіцит метилмалоніл-КоА мутази · Дефіцит метилмалоніл-коензиму А мутази · Метилмалоновий ацидоз, що не реагує на вітамін В12 |
| zh | 维生素B12无反应性甲基丙二酸血症 | 维生素B12无反应性甲基丙二酸尿症 |
| tr | B12 Vitamini - yanıtsız metilmalonik asidemi | Metilmalonil-CoA mutaz eksikliği · Metilmalonil-Koenzim A mutaz eksikliği · B12 vitamini-yanıtsız metilmalonik asidüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251000 | E | validated | |
| ICD-10 | E71.1 | NTBT | inclusion | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009612 | E | validated | |
| MONDO | 9612 | E | validated | |
| MeSH | C537573 | E | validated | |
| UMLS | C2931536 | E | validated | |
| GARD | 3586 | 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 (4):
- ORPHA:293355Methylmalonic acidemia without homocystinuria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MMUT | ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut- | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7526 | ENSG00000146085 | 609058 | 6p12.3 | methylmalonyl-CoA mutase | |
| MMUT | ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0 | 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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001259 | Coma | |
| HP:0001944 | Dehydration | |
| HP:0001254 | Lethargy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001882 | Leukopenia | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001266 | Choreoathetosis | |
| HP:0001987 | Hyperammonemia | |
| HP:0002721 | Immunodeficiency | |
| HP:0001972 | Macrocytic anemia | |
| HP:0000648 | Optic atrophy | |
| HP:0001733 | Pancreatitis | |
| HP:0002385 | Paraparesis | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0002273 | Tetraparesis | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/27
- This record as JSON: /data/d/27.json