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This Concept Map, created with IHMC CmapTools, has information related to: Pyruvate Dehydrogenase Complex, Impaired Neural Function causes Microcephaly, Gluconeogenesis maintains Blood glucose, Different Classes of E1 alpha mutations are Deletion or exon skipping mutation, Acetyl CoA is allosteric activator of Pyruvate Carboxylase, E1 alpha protein contributes to 60 catalytic centers for acetyl CoA, Different Classes of E1 alpha mutations are Missense point mutation, Lactate acidosis contributes to Impaired Neural Function, Full length E1 alpha compensates for Mutated E1 alpha subunit, OXPHOS produces ATP, Ann presents with 34% E1 activity in fibroblasts, Impaired Neural Function extent measured with Brain imaging, Mother 26yrs old gives birth to Elizabeth, Impaired Neural Function causes Peripheral neuropathy, PDH kinase activated by increased ATP, Missense point mutation results in the same amount of and decreased catalytic activity of E1 alpha protein, a spectrum of gene expression responsible for Variation in disease presentation, ADP regulate activity of PDH Complex, 60 catalytic centers for acetyl CoA found on PDH Complex, Ann were placed on "Ketogenic" diet, ATP regulate activity of PDH Complex