methylmalonic acidemia
Findings
No curated finding names methylmalonic acidemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0002012), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZNF143HGNC:12928
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (7)
- combined malonic and methylmalonic acidemia
- isolated methylmalonic aciduria cblD type
- methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- methylmalonic acidemia due to transcobalamin receptor defect
- methylmalonic aciduria and homocystinuria
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- vitamin B12-responsive methylmalonic acidemia
Other names
1 name
Resolves to: methylmalonic acidemia
- Also called
- methylmalonic aciduria