A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review

• Main Authors: Cong Zhao (Author), Hua Peng (Author), Nanchuan Jiang (Author), Yalan Liu (Author), Yan Chen (Author), Jie Liu (Author), Qing Guo (Author), Zubo Wu (Author), Lin Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

IntroductionMalonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.MethodsWe collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We u...