Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Synonyms: 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
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency?
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Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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