Pyruvate Dehydrogenase Deficiency – Mitochondrial dysfunction

What is Pyruvate dehydrogenase? Pyruvate dehydrogenase is involved in the production of cellular energy in the mitochondria.  It acts as a catalyst in the conversion of pyruvate into acetyl-CoA, which is used in the citric acid cycle (Kreb’s cycle) in cellular respiration and production…

Medium chain acyl-CoA dehydrogenase deficiency

Medium-chain acyl-COA dehydrogenase (MCAD) deficiency is an “inborn error of metabolism” in which there is an impaired ability to break down medium-chain fatty acids.  In a nutshell, the body can use either glucose (through glycolysis) or fatty acids (through beta-oxidation) to begin producing energy…

Short-chain Acyl-CoA Dehydrogenase Deficiency

  If you have tried fasting or a ketogenic diet and felt really horrible, this article may apply to you. The human body is wonderfully made and resilient enough to get energy from either carbs or fats — for most people.  But there are…