Abstract：
The mitochondrial phosphate carrier is critical for adenosine triphosphate synthesis by serving as the primary means for mitochondrial phosphate import across the inner membrane. Variants in the SLC25A3 gene coding mitochondrial phosphate carrier lead to failure in inorganic phosphate transport across mitochondria. The critical dependence on mitochondria as an energy source is especially evident in tissues with high-energy demands such as the heart, muscle; defects in the mitochondrial energy production machinery underlie a wide range of primary mitochondrial disorders that present with cardiac and muscle diseases. The characteristic clinical picture of a prominent early-onset hypertrophic cardiomyopathy and lactic acidosis may be an indication for analysis of the SLC25A3 gene. Here, described a patient with suspicion of infantile Pompe disease due to involvement of heart and muscle and high-level of plasma creatinine kinase but finally diagnosed mitochondrial phosphate-carrier deficiency.
摘要：
线粒体磷酸盐载体作为线粒体磷酸盐穿过内膜输入的主要手段，对于三磷酸腺苷的合成至关重要。编码线粒体磷酸盐载体的SLC25A3基因中的变体导致无机磷酸盐跨线粒体转运失败。对线粒体作为能量来源的关键依赖性在具有高能量需求的组织中尤其明显，例如心脏，肌肉；线粒体能量产生机制的缺陷是心脏和肌肉疾病中出现的各种原发性线粒体疾病的基础。突出的早发性肥厚型心肌病和乳酸性酸中毒的特征性临床表现可能是分析SLC25A3基因的指征。这里,描述了一名由于心脏和肌肉受累以及血浆肌酐激酶水平升高而怀疑婴儿Pompe病的患者，但最终诊断为线粒体磷酸盐载体缺乏症。
