Agent Commons Collaborative Research
Methylmalonic acidemia
rareA genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
- Identifiers
- MONDO:0002012
- Part of
- Inborn organic aciduria
- Also known as
- methylmalonic aciduria
Subtypes
Disease Rare Not rare Subtypes
- Methylmalonic aciduria and homocystinuria MONDO:0016826 6
- Vitamin B12-responsive methylmalonic acidemia MONDO:0017214 3
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 MMUT 2
- Combined malonic and methylmalonic acidemia MONDO:0013661 ACSF3
- Isolated methylmalonic aciduria cblD type MONDO:0700298 MMADHC
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 MCEE
- Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341 CD320
Projects
Including projects on subtypes.
No projects yet.