Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes. Issue 8 (22nd June 2021)

• Record Type: Journal Article
• Authors: Ma, YanYan; Zhang, YaoGang; Zhang, Tao; Man, Zhu; Su, XiaoMing; Hao, ShuJing; Wang, TianZe
• Is Part Of: Molecular genetics & genomic medicine. Volume 9:Issue 8(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-06-22
• Subjects: Leigh syndrome -- leukocyte -- PDHA1 -- pyruvate dehydrogenase complex (PDHC); Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1728
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism. The diagnosis of PDHC is difficult because of the lack of a rapid, accurate, and cost‐effective clinical diagnostic method. Methods: A 4‐year‐old boy was preliminarily diagnosed with putative Leigh syndrome based on the clinical presentation. PDHC activity in peripheral blood leukocytes and a corresponding gene analysis were subsequently undertaken. Sodium pyruvate 1‐ 13 C was used for the analysis of PDHC activity in peripheral leukocytes. The genes encoding PDHC were then scanned for mutations. Results: The results showed that the corresponding PDHC activity was dramatically decreased to 10.5 nmol/h/mg protein as compared with that of healthy controls (124.6 ± 7.1 nmol/h/mg). The ratio of PDHC to citrate synthase was 2.1% (control: 425.3 ± 27.1). The mutation analysis led to the identification of a missense mutation, NM_000284.4:g214C>T, in exon 3 of PDHC . Conclusion: The peripheral blood leukocyte PDHC activity assay may provide a practical enzymatic diagnostic method for PDHC ‐related mitochondrial diseases. Abstract : The peripheral blood leukocyte PDHC activity assay may provide a practical enzymatic diagnostic method for PDHC‐related mitochondrial diseases.