Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


Engelsk navn: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Engelske synonym: MCEE deficiency,Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency,Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency,Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency


Definisjon

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.

Fra Orphanet

ORPHA: 308425
Klassifiseringsnivå: Disorder
ICD-10: E71.1

Mer informasjon


Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)