Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review

• Main Authors: Dan Zhao (Author), Ming Liu (Author), Huafang Jiang (Author), Tianyu Song (Author), Chaolong Xu (Author), Xin Duan (Author), Ruoyu Duan (Author), Han Xu (Author), Zhimei Liu (Author), Fang Fang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of T...