Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Synonyms: MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency · Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency · Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency · Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency · Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency |
| fr | Acidémie méthylmalonique par déficit en méthylmalonyl-CoA épimérase | Acidurie méthylmalonique par déficit en méthylmalonyl-CoA racémase · Acidurie méthylmalonique par déficit en méthylmalonyl-CoA épimérase · Déficit en MCEE |
| de | Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel | MCEE-Mangel · Methylmalonazidurie durch Methylmalonyl-CoA-Epimerase-Mangel · Methylmalonazidurie durch Methylmalonyl-CoA-Racemerase-Mangel · Methylmalonazidämie durch Methylmalonyl-CoA-Racemerase-Mangel |
| es | Acidemia metilmalónica por deficiencia de metilmalonil-CoA epimerasa | Acidemia metilmalónica por deficiencia de metilmalonil-CoA racemasa · Aciduria metilmalónica por deficiencia de metilmalonil-CoA epimerasa · Aciduria metilmalónica por deficiencia de metilmalonil-CoA racemasa · Deficiencia de MCEE |
| it | Acidemia metilmalonica da deficit di metilmalonil-CoA epimerasi | Acidemia metilamalonica da deficit di metilmalonil-CoA racemasi · Aciduria metilmalonica da deficit di metilmalonil-CoA epimerasi · Aciduria metilmalonica da deficit di metilmalonil-CoA racemasi · Deficit di MCEE |
| nl | Methylmalonacidurie door methylmalonyl-CoA-epimerasedeficiëntie | MCEE-deficiëntie · Methylmalonacidemie door methylmalonyl-CoA-epimerasedeficiëntie · Methylmalonacidemie door methylmalonyl-CoA-racemasedeficiëntie · Methylmalonacidurie door methylmalonyl-CoA-racemasedeficiëntie · Methylmalonzuuracidemie door methylmalonyl-CoA-epimerasedeficiëntie · Methylmalonzuuracidemie door methylmalonyl-CoA-racemasedeficiëntie · Methylmalonzuuracidurie door methylmalonyl-CoA-epimerasedeficiëntie · Methylmalonzuuracidurie door methylmalonyl-CoA-racemasedeficiëntie |
| pt | Acidemia metilmalónica devido a défice de metilmalomil-CoA epimerase | |
| pl | Kwasica metylomalonowa z powodu niedoboru epimerazy metylomalonylo-CoA | Acyduria metylomalonowa z powodu niedoboru epimerazy metylomalonylo-CoA · Acyduria metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA · Kwasica metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA · Niedobór MCEE |
| cs | Methylmalonová acidémie způsobená deficitem methylmalonyl-CoA-epimerázy | MCEE deficit · Methylmalonová acidémie způsobená deficitem methylmalonyl-CoA-racemázy · Methylmalonová acidurie způsobená deficitem methylmalonyl-CoA-epimerázy · Methylmalonová acidurie způsobená deficitem methylmalonyl-CoA-racemázy |
| uk | Метилмалонова ацидемія, зумовлена дефіцитом метилмалоніл-КоА епімерази | Дефіцит MCEE · Метилмалонова ацидемія внаслідок дефіциту метилмалоніл-КоА-рацемази · Метилмалонова ацидурія внаслідок дефіциту метилмалоніл-КоА епімерази · Метилмалонова ацидурія внаслідок дефіциту метилмалоніл-КоА-рацемази |
| zh | 甲基丙二酰辅酶A差向异构酶缺乏所致乙基丙二酸血症 | 甲基丙二酰辅酶A异构酶缺乏所致甲基丙二酸尿症 |
| tr | Metilmalonil-CoA epimeraz eksikliğine bağlı metilmalonik asidemi | MCEE eksikliği · Metilmalonil-KoA rasemaz eksikliğine bağlı metilmalonik asidemi · Metilmalonil-KoA rasemaz eksikliğine bağlı metilmalonik asidüri · Metilmalonil-KoA epimeraz eksikliğine bağlı metilmalonik asidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251120 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009615 | E | validated | |
| UMLS | C4707328 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:293355Methylmalonic acidemia without homocystinuria
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MCEE | Disease-causing germline mutation(s) in | Assessed | HGNC:16732 | ENSG00000124370 | 608419 | 2p13.3 | methylmalonyl-CoA epimerase |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 27699154[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27699154[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308425
- This record as JSON: /data/d/308425.json