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This Concept Map, created with IHMC CmapTools, has information related to: Nov 22 PDC deficiency, PDC must work at capacity for normal brain function in affected pt often resutls in neurological disorders, X Chromosome passing it on to Elizabeth, pyruvate dehydrogenase kinase (PDK) inhibited by DCA, E1 alpha gene on X Chromosome, Mother 26 yo carries E1 alpha mutation, pyruvate dehydrogenase kinase (PDK) activated by High NADH/NAD+ ratio, pyruvate dehydrogenase kinase (PDK) inhibited by ADP, PDC activity mostly affects primarily oxidative tissues, Missense, nonsense or deletion leads to no loss of E1 alpha mRNA, Pyruvate Dehydrogenase inhibited by pyruvate dehydrogenase kinase (PDK), unstable E1 subunit also known as Pyruvate Dehydrogenase, pyruvate to Acetyl CoA, CNS where PDC must work at capacity for normal brain function in affected pt, Elizabeth presents with 10% E1 activity in fibroblasts, Mother 26 yo gives birth to Ann, development called lyonization, Acetyl CoA which enters TCA cycle, unstable E1 subunit results in dificiency in PDC activity, loss of E1 alpha activity results in dificiency in PDC activity, Elizabeth have varying severity of PDC deficiency