Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

• Main Authors: Jianbo Shu (Author), Xiufang Zhi (Author), Jing Chen (Author), Meifang Lei (Author), Jie Zheng (Author), Wenchao Sheng (Author), Chunhua Zhang (Author), Dong Li (Author), Chunquan Cai (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Backgroundβ-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder caused by genetic defects in mitochondrial DNA....