ArticleFrontiers in pediatrics2022
Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Plasma Metabolic Outliers Identified in Estonian Human Knockouts.Metabolites · 2025Article
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report.Journal of medical case reports · 2022Article
- Commentary: Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease.Frontiers in pediatrics · 2022Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
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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 Conclusion: The report about β-ureidopropionase deficiency caused by a nuclear gene variant and MELAS syndrome caused by a mitochondrial gene variant coexisting in the same patient enriches the clinical study of these two rare diseases.
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