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methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
Mondo Term and Equivalent IDs
MONDO:0009615: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C565386
OMIM:251120
Orphanet:308425
SCTID:765137006
UMLS:C1855100
MONDO:0009615
High level summary of knowledge for a disease, including descriptions and datasource references.