Article
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
Molecular genetics and metabolism - 1 Nov 2017
Shin Ha Kyung, Grahame George, McCandless Shawn E, Kerr Douglas S, Bedoyan Jirair K
Abstract excerpt
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency....
Topics
- Acidosis, Lactic
- Algorithms
- Biochemistry
- Cells, Cultured
- Enzyme Assays
- Female
- Fibroblasts
- Humans
- Lymphocytes
- Male
- Mutation
- Pyruvate Dehydrogenase (Lipoamide)
- Pyruvate Dehydrogenase Complex
- Pyruvate Dehydrogenase Complex Deficiency Disease