Combined malonic and methylmalonic acidemia
Synonyms: CMAMMA · Combined malonic and methylmalonic aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined malonic and methylmalonic acidemia | CMAMMA · Combined malonic and methylmalonic aciduria |
| fr | Acidémie combinée malonique et méthylmalonique | Acidurie combinée malonique et méthylmalonique · CMAMMA |
| de | Malon- und Methylmalonazidurie, kombinierte | CMAMMA |
| es | Acidemia malónica y metilmalónica combinada | Aciduria malónica y metilmalónica combinada · CMAMMA |
| it | Acidemia combinata malonica e metilmalonica | Aciduria metilmalonica e malonica combinata · CMAMMA |
| nl | Gecombineerde malon- en methylmalonacidurie | CMAMMA · Gecombineerde malon- en methylmalonacidemie · Gecombineerde malonzuur- en methylmalonzuuracidemie · Gecombineerde malonzuur- en methylmalonzuuracidurie |
| pt | Acidemia combinada malónica e metilmalónica | Acidúria combinada malónica e metilmalónica · CMAMMA |
| pl | Złożona kwasica malonowa i metylomalonowa | CMAMMA · Złożona acyduria malonowa i metylomalonowa |
| cs | Kombinovaná malonová a methylmalonová acidémie | CMAMMA · Kombinovaná malonová a methylmalonová acidurie |
| uk | Поєднання малонової та метилмалонової ацидемії | CMAMMA · Поєднання малонової та метилмалонової ацидурії |
| zh | 丙二酸血症和甲基丙二酸血症 | 丙二酸血症合并甲基丙二酸血症 |
| tr | Kombine malonik ve metilmalonik asidemi | CMAMMA · Kombine malonik ve metilmalonik asidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614265 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 0013661 | E | validated | |
| MeSH | C580002 | E | validated | |
| UMLS | C3280314 | E | validated | |
| GARD | 10818 | 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 (2):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACSF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:27288 | ENSG00000176715 | 614245 | 16q24.3 | acyl-CoA synthetase family member 3 | 21841779[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3.3 / 100 000 | United States | Value and class | Validated | 21841779[PMID] |
| 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.
HPO phenotypes
26 annotations · validated 2019-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040145 | Dicarboxylic acidemia | |
| HP:0003215 | Dicarboxylic aciduria | |
| HP:0002912 | Methylmalonic acidemia | |
| HP:0012120 | Methylmalonic aciduria | |
| Frequent (79-30%) | ||
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001941 | Acidosis | |
| HP:0000708 | Atypical behavior | |
| HP:0008936 | Axial hypotonia | |
| HP:0001944 | Dehydration | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001332 | Dystonia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001298 | Encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011169 | Generalized clonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001943 | Hypoglycemia | |
| HP:0031064 | Impaired continence | |
| HP:0002254 | Intermittent diarrhea | |
| HP:0001993 | Ketoacidosis | |
| HP:0002354 | Memory impairment | |
| HP:0000252 | Microcephaly | |
| HP:0002076 | Migraine | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002013 | Vomiting | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 9700595[PMID]_21785126[PMID]_21841779[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289504
- This record as JSON: /data/d/289504.json