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Xu, R. Propionic Acidemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5492 (accessed on 21 September 2026).
Xu R. Propionic Acidemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5492. Accessed September 21, 2026.
Xu, Rita. "Propionic Acidemia" Encyclopedia, https://encyclopedia.pub/entry/5492 (accessed September 21, 2026).
Xu, R. (2020, December 24). Propionic Acidemia. In Encyclopedia. https://encyclopedia.pub/entry/5492
Xu, Rita. "Propionic Acidemia." Encyclopedia. Web. 24 December, 2020.
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Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
genetic conditions
References
- Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care.2017 Feb;33(2):142-146. doi: 10.1097/PEC.0000000000001028.
- Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI,Karall D. Prolonged QTc intervals and decreased left ventricular contractility inpatients with propionic acidemia. J Pediatr. 2007 Feb;150(2):192-7, 197.e1.
- Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC,Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F,Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.Proposed guidelines for the diagnosis and management of methylmalonic andpropionic acidemia. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi:10.1186/s13023-014-0130-8. Review.
- Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: clinicalmanagement update. Curr Opin Pediatr. 2016 Dec;28(6):682-693. Review.
- Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, MeissnerT, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-KrainzM, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T,Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Propionic acidemia:clinical course and outcome in 55 pediatric and adolescent patients. Orphanet JRare Dis. 2013 Jan 10;8:6. doi: 10.1186/1750-1172-8-6.
- Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E,MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C,Enns GM, Summar ML. Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022.
- Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C,Chakarapani A, Gropman AL. Neurologic considerations in propionic acidemia. MolGenet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003.
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