PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report

• Ngā kaituhi matua: DongYing Tao (Author), HuiQin Zhang (Author), Jingmin Yang (Author), HuanHong Niu (Author), JingJing Zhang (Author), Minghua Zeng (Author), ShengQuan Cheng (Author)
• Hōputu: Pukapuka
• I whakaputaina: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

BackgroundPyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels, and hyperammonemia. The pyruvate carboxylase (...