Methylmalonic acidemias, also called methylmalonic acidurias,[note 1] are a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats.[1] This leads to a buildup of a toxic level of methylmalonic acid in body liquids and tissues. Due to the disturbed branched-chain amino acids (BCAA) metabolism, they are among the classical organic acidemias.[2]
Methylmalonic acidemias have varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder.[3]
The first symptoms may begin as early as the first day of life or as late as adulthood.[4] Symptoms can range from mild to life-threatening.[1] Some forms can result in death if undiagnosed or left untreated.
Methylmalonic acidemias are found with an equal frequency across ethnic boundaries.[5]
Cite error: There are <ref group=note> tags on this page, but the references will not show without a {{reflist|group=note}} template (see the help page).
^ ab"Methylmalonic acidemia". MedlinePlus. National Library of Medicine. Retrieved 2024-04-30.
^Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M (August 2017). ""Classical organic acidurias": diagnosis and pathogenesis". Clinical and Experimental Medicine. 17 (3): 305–323. doi:10.1007/s10238-016-0435-0. PMID 27613073.
^Matsui SM, Mahoney MJ, Rosenberg LE (April 1983). "The natural history of the inherited methylmalonic acidemias". The New England Journal of Medicine. 308 (15): 857–861. doi:10.1056/NEJM198304143081501. PMID 6132336.
^Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, et al. (November 2015). "The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation". Journal of Inherited Metabolic Disease. 38 (6): 1041–1057. doi:10.1007/s10545-015-9839-3. PMID 25875215.
^"About Methylmalonic Acidemia". National Human Genome Research Institute. U.S. National Institutes of Health. Retrieved 2015-11-03.
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