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Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man.

作者信息

Tan Nigel S, Bajaj Ravi R, Morel Chantal, Singh Sheldon M

机构信息

Schulich Heart Program (Tan, Singh), Sunnybrook Health Sciences Centre, Department of Medicine, University of Toronto; Division of Cardiology, Department of Medicine (Bajaj), North York General Hospital; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine (Morel), University of Toronto, Toronto, Ont.

出版信息

CMAJ. 2018 Jul 23;190(29):E883-E887. doi: 10.1503/cmaj.180240.

DOI:10.1503/cmaj.180240
PMID:30037889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6056285/
Abstract
摘要

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本文引用的文献

1
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.丙酸血症作为成人起病型扩张型心肌病的一个病因。
Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30.
2
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.甲基丙二酸血症和丙酸血症诊断与管理的拟议指南。
Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8.
3
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. nonsense 突变通读作为丙酸血症治疗新方法的可行性。
Hum Mutat. 2012 Jun;33(6):973-80. doi: 10.1002/humu.22047. Epub 2012 Apr 16.
4
Cardiomyopathies in propionic aciduria are reversible after liver transplantation.原发性肉碱缺乏症性心肌病在肝移植后是可逆的。
J Pediatr. 2010 Jan;156(1):128-34. doi: 10.1016/j.jpeds.2009.07.002.
5
Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy.代谢性遗传病因所致小儿心肌病的诊断方法及其与治疗的关系
Prog Pediatr Cardiol. 2007;24(1):15-25. doi: 10.1016/j.ppedcard.2007.08.013.
6
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].[丙酸血症与感音神经性听力损失：在分子遗传学水平上存在关联吗？]
HNO. 2008 Jan;56(1):37-42. doi: 10.1007/s00106-007-1560-6.
7
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.丙酸血症患者QTc间期延长及左心室收缩力下降。
J Pediatr. 2007 Feb;150(2):192-7, 197.e1. doi: 10.1016/j.jpeds.2006.11.043.
8
The incidence of inherited metabolic disorders in the West Midlands, UK.英国西米德兰兹郡遗传性代谢疾病的发病率。
Arch Dis Child. 2006 Nov;91(11):896-9. doi: 10.1136/adc.2005.091637. Epub 2006 May 11.
9
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.丙酸血症中的继发性线粒体功能障碍：内源性线粒体毒素的致病作用。
Biochem J. 2006 Aug 15;398(1):107-12. doi: 10.1042/BJ20060221.
10
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.日本丙酸血症轻症形式的意外高患病率：一种常见突变的存在及可能的临床意义
Hum Genet. 2002 Aug;111(2):161-5. doi: 10.1007/s00439-002-0761-z. Epub 2002 Jul 4.