Disorders of Gluconeogenesis
Pyruvate carboxylase (PC)
Phosphoenolpyruvate carboxykinase (PEPCK)
Defects of all four gluconeogenic enzymes are known Common to all are the tendency to facile hypoglycemia induced by fasting and lactic acidosis due to failure to recycle lactate to glucose. The deficiency of G-6Pase (Chap. 5) and FBPase usually spare the brain, unless it is damaged by recurrent hypoglycemia. The deficiencies of PEPCK and PC are associated with a progressive neurodegenerative disorder which is usually fatal.
KeywordsLactic Acidosis Pyruvate Carboxyla Renal Tubular Acidosis Metabolic Derangement Culture Skin Fibroblast
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