Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Orpha code: 308425OMIM code: 251120

Definition

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.

Disease data
Classification

Disease

Synonyms
MCEE deficiency
Acyduria metylomalonowa z powodu niedoboru epimerazy metylomalonylo-CoA
Acyduria metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA
Kwasica metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA
Niedobór MCEE
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
ORPHA code
308425
OMIM code
251120
ICD10 code
E71.1
ICD11 code
-

No additional description.

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