Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy

• Main Authors: Min Chen (Author), Yao Cai (Author), Sitao Li (Author), Hui Xiong (Author), Mengxian Liu (Author), Fei Ma (Author), Xin Xiao (Author), Hu Hao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variation of the Solute carrier family 25 member 20 (SLC25A20) gene. Carnitine-acylcarnitine translocase is one of the cruc...