Abstract
Extract: Propionate metabolism in human skin fibroblasts was studied in cells from three controls and one patient with methylmalonic acidemia. In the control cells, propionate-2-14C was metabolized to succinate and thence into the citric acid cycle, as indicated by the appearance of the C label in CO2, succinate, aspartate, and glutamate. The patient's fibroblasts accumulated methylmalonate and failed to convert the C label as readily into CO2, aspartate, and glutamate.
Speculation: Human skin fibroblasts cultured from a patient with methylmalonic acidemia offer an in vitro technique of pinpointing the defective site in this disorder. Furthermore, the kinetic properties of the mutant enzyme can be readily investigated.
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Morrow, G., Mellman, W., Barness, L. et al. Propionate Metabolism in Cells Cultured from a Patient with Methylmalonic Acidemia. Pediatr Res 3, 217–219 (1969). https://doi.org/10.1203/00006450-196905000-00005
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DOI: https://doi.org/10.1203/00006450-196905000-00005
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