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

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

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....

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Bibliographic Details
Main Authors: Jianbo Shu, Xiufang Zhi, Jing Chen, Meifang Lei, Jie Zheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Chunquan Cai
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Pediatrics
Subjects:
β-ureidopropionase deficiency
UPB1 gene
MELAS syndrome
mitochondrial DNA
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.838341/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.838341/full

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