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

ABSTRACT:

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 DNA.

Case presentation

One 8-year-old boy presented with dizziness, vomiting, and convulsions. The gas chromatography-mass spectrometry results suggested β-ureidopropionase deficiency. The whole-exome sequencing results revealed homozygous missense variant c.977G>A (p.R326Q) in UPB1. However, the patient presented with persistent hyperlactacidemia and metabolic acidosis, which did not correspond to the classic features of β-ureidopropionase deficiency. Combined with the manife

SUBMITTER: Shu J 

PROVIDER: S-EPMC8899394 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature