Raja Vaishnavi, Reynolds Christian A, Greenberg Miriam L
Department of Biological Sciences, Wayne State University, USA.
J Rare Dis Res Treat. 2017;2(2):58-62. doi: 10.29245/2572-9411/2017/2.1087. Epub 2017 Mar 21.
Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 200 patients are diagnosed worldwide, but it is estimated that the disorder may be substantially under-diagnosed due to the variable spectrum of clinical manifestations. BTHS is caused by mutations in the gene tafazzin (), resulting in defective remodeling of cardiolipin (CL), the signature phospholipid of the mitochondrial membranes. Many of the clinical sequela associated with BTHS can be directly attributed to mitochondria defects. In 2008, a definitive biochemical test was described based on detection of the abnormal CL profile characteristic of BTHS. This mini-review provides an overview of the etiology of BTHS, as well as a description of common clinical phenotypes associated with the disorder.
巴斯综合征（BTHS）是一种罕见的X连锁遗传病，其特征为心肌病、骨骼肌病、中性粒细胞减少症和有机酸尿症。巴斯综合征临床表现的存在与否及严重程度差异很大，即使在具有相同基因突变的患者中也是如此。目前，全球确诊患者不到200例，但据估计，由于临床表现的范围各异，该疾病可能存在大量漏诊情况。巴斯综合征由tafazzin基因（）突变引起，导致心磷脂（CL）重塑缺陷，心磷脂是线粒体膜的标志性磷脂。许多与巴斯综合征相关的临床后遗症可直接归因于线粒体缺陷。2008年，基于检测巴斯综合征特有的异常CL谱描述了一种确定性生化检测方法。本综述概述了巴斯综合征的病因，并描述了与该疾病相关的常见临床表型。
