Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts.
Biochemical studies in liver, muscle, and cultured fibroblasts were carried out in seven patients with Friedreich ataxia. Lowered activity of pyruvate carboxylase was shown in liver and cultured fibroblasts in all instances.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D005621:Friedreich Ataxia / Q000201:enzymology*; D006801:Humans; D008099:Liver / Q000201:enzymology*; D009132:Muscles / Q000201:enzymology; D011766:Pyruvate Carboxylase / Q000378:metabolism*
D011766:Pyruvate Carboxylase