Dataset Information

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 manifestations of developmental delay, poor academic performance, and poor sports stamina, whole-mitochondrial-genome sequencing was performed. The results exhibited the variant m.3243A>G of MT-TL1 gene. The level of heterogeneity was 65% in the patient and 17.8% in his mother. Eventually, the final diagnosis of β-ureidopropionase deficiency combined with MELAS syndrome was made.

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.

SUBMITTER: Shu J

PROVIDER: S-EPMC8899394 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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

Shu Jianbo J Zhi Xiufang X Chen Jing J Lei Meifang M Zheng Jie J Sheng Wenchao W Zhang Chunhua C Li Dong D Cai Chunquan C

Frontiers in pediatrics 20220221

<h4>Background</h4>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.<h4>Case presentation</h4>One 8-year-old boy presented with dizziness, vomiting, and convulsions. The gas chromatography-mass spectrometry results suggested β-ureidopropionase deficiency. The ...[more]

PMID: 35265567

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