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

BACKGROUND: β-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 DN...

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Detalles Bibliográficos
Autores principales: Shu, Jianbo, Zhi, Xiufang, Chen, Jing, Lei, Meifang, Zheng, Jie, Sheng, Wenchao, Zhang, Chunhua, Li, Dong, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8899394/
https://www.ncbi.nlm.nih.gov/pubmed/35265567
http://dx.doi.org/10.3389/fped.2022.838341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8899394/
https://www.ncbi.nlm.nih.gov/pubmed/35265567
http://dx.doi.org/10.3389/fped.2022.838341

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