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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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