Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.

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 pr

SUBMITTER: Ma Y 

PROVIDER: S-EPMC8404224 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature