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Abstract：
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to diagnose PA. Early-onset PA can lead to acute deterioration, metabolic acidosis, and hyperammonemia shortly after birth, which can result in high mortality and disability. Late-onset cases of PA have a more heterogeneous clinical spectra, including growth retardation, intellectual disability, seizures, basal ganglia lesions, pancreatitis, cardiomyopathy, arrhythmias, adaptive immune defects, rhabdomyolysis, optic atrophy, hearing loss, premature ovarian failure, and chronic kidney disease. Timely and accurate diagnosis and appropriate treatment are crucial to saving patients\' lives and improving their prognosis. Recently, the number of reported PA cases in China has increased due to advanced diagnostic techniques and increased research attention. However, an overview of PA prevalence in China is lacking. Therefore, this review provides an overview of recent advances in the pathogenesis, diagnostic strategies, and treatment of PA, including epidemiological data on PA in China. The most frequent variants among Chinese PA patients are c.2002G > A in PCCA and c.1301C > T in PCCB, which are often associated with severe clinical symptoms. At present, liver transplantation from a living (heterozygous parental) donor is a better option for treating PA in China, especially for those exhibiting a severe metabolic phenotype and/or end-organ dysfunction. However, a comprehensive risk-benefit analysis should be conducted as an integral part of the decision-making process. This review will provide valuable information for the medical care of Chinese patients with PA.
摘要：
丙酸血症（PA）是一种罕见的常染色体隐性遗传先天性疾病，由PCCA或PCCB基因突变引起。丙酰肉碱升高,2-甲基柠檬酸（2MCA），丙酰甘氨酸,甘氨酸和3-羟基丙酸酯可用于诊断PA。早发性PA可导致急性恶化，代谢性酸中毒,出生后不久的高氨血症，这可能导致高死亡率和残疾。PA的晚发性病例具有更多的异质性临床谱，包括生长迟缓，智力残疾,癫痫发作,基底神经节病变,胰腺炎,心肌病,心律失常,适应性免疫缺陷，横纹肌溶解症,视神经萎缩,听力损失,卵巢早衰,和慢性肾病。及时准确的诊断和适当的治疗对挽救患者生命和改善预后至关重要。最近,由于先进的诊断技术和越来越多的研究关注，中国报告的PA病例数量有所增加。然而,缺乏对中国PA患病率的概述。因此,这篇综述概述了发病机制的最新进展，诊断策略，和PA的治疗，包括中国PA的流行病学数据。中国PA患者中最常见的变异是PCCA中的c.2002G>A和PCCB中的c.1301C>T，通常与严重的临床症状有关。目前,在中国，从活体（杂合亲本）供体进行肝移植是治疗PA的更好选择，特别是对于表现出严重代谢表型和/或终末器官功能障碍的那些。然而,全面的风险效益分析应作为决策过程的一个组成部分。该综述将为中国PA患者的医疗保健提供有价值的信息。
