A Case of Propionic Acidemia Presenting with Dilated Cardiomyopathy |
Son, Jisoo
(Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Choi, Yoon-Ha (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Seo, Go Hun (Division of Medical Genetics, 3billion Inc.) Kang, Minji (Genome Research Center for Birth Defects and Genetic Diseases, Asan Institute for Life Sciences, Asan Medical Center) Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) |
1 | Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nelson Textbook of Pediatrics. 21th ed. : Elsevier 2020:695-739. |
2 | Shchelochkov OA, Carrillo N, Venditti C, Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. |
3 | Laemmle A, Balmer C, Doell C, Sass J, Haberle J, Baumgartner M. Propionic academia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr 2014;173:971-4. DOI |
4 | Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, de Keyzer Y, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 2010;156:128-34. DOI |
5 | Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab 2005;85:286-90. DOI |
6 | Almuqbil M, Chinsky JM, Srivastava S. Metabolic strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurol Open 2019;6:1-9. |
7 | Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, et al. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet 2017;25:1195-201. DOI |
8 | Lee TM, Addonizio LJ, Barshop BA, Chung WK. Unusual presentation of propionic acidemia as isolated cardiomyopathy. J Inherit Metab Dis 2009;32:97-101. DOI |
9 | Weintraub RG, Semsarian C, Macdonald P. Dilated cardiomyopathy. Lancet 2017;390:400-14. DOI |
10 | Rodriguez-Gonzalez M, Perez-Reviriego AA, Castellano-Martinez A, Cascales-Poyatos HM. Cardiac Complications in Patients with Propionic Acidemia. J Rare Dis Res Treat 2018;3:13-21. DOI |
11 | Baumgartner MR, Horster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 2014;9:130. DOI |
12 | Schreiber J, Chapman KA, Summar ML, Mew NA, Sutton VR, MacLeod E, et al. Neurologic considerations in propionic academia. Mol Genet Metab 2012;105:10-5. DOI |