Combined malonic and methylmalonic acidemia

General Information (adopted from Orphanet):

Synonyms, Signs: CMAMMA
Combined malonic and methylmalonic aciduria
Number of Symptoms 9
OrphanetNr: 289504
OMIM Id: 614265
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Classic organic aciduria
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012120) Methylmalonic aciduria 20 / 7739
2
 (HPO:0011169) Generalized clonic seizures 2 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0002013) Vomiting 191 / 7739
5
 (HPO:0002014) Diarrhea 225 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0001993) Ketoacidosis 17 / 7739
8
 (HPO:0001944) Dehydration 59 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ozand et al. (1994) reported 2 sibs with CMAMMA but normal malonyl-CoA decarboxylase activity (see 248360).

Gregg et al. (1998) reported a patient with combined malonic and methylmalonic aciduria who excreted much larger amounts of methylmalonic ...
Molecular genetics OMIM In 8 of 9 patients with CMAMMA, Sloan et al. (2011) identified mutations in the ACSF3 gene in homozygosity or compound heterozygosity, including 9 missense mutations, 1 in-frame deletion, and 1 nonsense mutation. Four subjects were homozygous for ...
Population genetics OMIM Based on the frequency of mutations in ACSF3 in the ClinSeq cohort followed at NIH and the 1000 Genomes Project, Sloan et al. (2011) estimated a disease incidence of about 1 in 30,000 with 95% confidence intervals of ...