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methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009615

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. [ Orphanet:308425 ]

Synonyms: MCEE deficiency methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C565386 (MONDO:equivalentTo)
  • GARD:17390 (Orphanet:308425)
  • Orphanet:308425 (OMIM:251120)
  • OMIM:251120 (Orphanet:308425/e)
  • UMLS:C1855100 (Orphanet:308425)
  • SCTID:765137006 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

exactMatch

http://identifiers.org/mesh/C565386

https://omim.org/entry/251120

http://identifiers.org/snomedct/765137006

http://www.orpha.net/ORDO/Orphanet_308425

http://linkedlifedata.com/resource/umls/id/C1855100

has related synonym

methylmalonic aciduria III

methylmalonic aciduria III, formerly

methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency

methylmalonyl-Coa racemase deficiency

methylmalonyl-CoA epimerase deficiency

id

MONDO:0009615

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009615

Term relations

Subclass of: