ORPHA:28
Vitamin B12-responsive methylmalonic acidemia
Synonyms: Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vitamin B12-responsive methylmalonic acidemia | Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria |
| fr | Acidémie méthylmalonique sensible à la vitamine B12 | Acidurie méthylmalonique sensible à la vitamine B12 · Déficit en adénosylcobalamine |
| de | Methylmalonazidämie, Vitamin B12-sensible | Methylmalonazidurie, Vitamin B12-abhängige |
| es | Acidemia metilmalónica sensible a la vitamina B12 | Aciduria metilmalónica sensible a la vitamina B12 · Deficiencia de adenosilcobalamina |
| it | Acidemia metilmalonica sensibile alla vitamina B12 | Aciduria metilmalonica sensibile alla vitamina B12 |
| nl | Vitamine B12-responsieve methylmalonacidemie | Adenosylcobalaminedeficiëntie · Vitamine B12-responsieve methylmalonacidurie · Vitamine B12-responsieve methylmalonzuuracidemie · Vitamine B12-responsieve methylmalonzuuracidurie |
| pt | Acidemia metilmalónica sensível à vitamina B12 | Acidúria metilmalónica sensível à vitamina B12 · Deficiência de adenosilcobalamina |
| pl | Kwasica metylomalonowa reagująca na witaminę B12 | Acyduria metylomalonowa reagująca na witaminę B12 · Adenosylcobalamin deficiency Niedobór adenosylcobalaminy |
| cs | Methylmalonová acidemie odpovídající na vitamin B12 | Adenosylkobalaminový deficit · Methylmalonová acidurie odpovídající na vitamin B12 |
| uk | Метилмалонова ацидемія, чутлива до вітаміну В12 | Дефіцит аденозилкобаламіну · Метилмалонова ацидурія, що реагує на вітамін В12 |
| zh | 维生素B12反应性甲基丙二酸血症 | 维生素B12反应性甲基丙二酸尿症 |
| tr | B12 vitaminine duyarlı metilmalonik asidemi | Adenosilkobalamin eksikliği · B12 vitaminine duyarlı metilmalonik asidüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251100 | BTNT | validated | |
| OMIM | 251110 | BTNT | validated | |
| OMIM | 277410 | BTNT | validated | |
| ICD-10 | E71.1 | NTBT | inclusion | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0017214 | E | validated | |
| UMLS | C0342720 | E | validated | |
| GARD | 12623 | 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 (5):
- ORPHA:79171Disorder of cobalamin metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
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Genes
0 direct · 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| MMAA | ORPHA:79310Vitamin B12-responsive methylmalonic acidemia type cblA | Disease-causing germline mutation(s) in | Assessed | HGNC:18871 | ENSG00000151611 | 607481 | 4q31.21 | metabolism of cobalamin associated A | |
| MMAB | ORPHA:79311Vitamin B12-responsive methylmalonic acidemia type cblB | Disease-causing germline mutation(s) in | Assessed | HGNC:19331 | ENSG00000139428 | 607568 | 12q24.11 | metabolism of cobalamin associated B | |
| MMADHC | ORPHA:308442Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25221 | ENSG00000168288 | 611935 | 2q23.2 | metabolism of cobalamin associated D |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 192 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001259 | Coma | |
| HP:0001944 | Dehydration | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0001254 | Lethargy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001987 | Hyperammonemia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0000083 | Renal insufficiency | |
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/28
- This record as JSON: /data/d/28.json