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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
MESH:C565386: 
Orphanet:308425: 
SCTID:765137006: 
UMLS:C1855100: