Ji Guang, Liu Yaling, Song Xueqin, Li Zhenfei
Department of Neurology, Second Hospital of Hebei Medical University, Shijiazhuang, China.
Front Genet. 2022 Mar 17;13:807822. doi: 10.3389/fgene.2022.807822. eCollection 2022.
Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare. Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and clinical exome sequencing analysis were performed. Two novel mutations were identified in the PCCB gene: M1:c.404_406del:p.G135del and M2:c.632C>T:p.T211I. Late-onset propionic acidemia should be taken into account, and metabolic screening as well as gene analysis should be performed to make a definite diagnosis timely.
丙酸血症是一种常染色体隐性代谢紊乱疾病，成年发病的患者非常罕见。鉴定出了两个PCCB突变。收集了一名患者的临床数据，并进行了代谢筛查和临床外显子组测序分析。在PCCB基因中鉴定出两个新的突变：M1：c.404_406del:p.G135del和M2：c.632C>T:p.T211I。应考虑迟发性丙酸血症，并应进行代谢筛查和基因分析以便及时做出明确诊断。
