Category «Inborn Errors of Metabolism»

Pyruvate Dehydrogenase Deficiency – Mitochondrial disfunction

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 of ATP. So, it is pretty much essential, and deficiencies of pyruvate dehydrogenase can be …

Medium chain acyl-CoA dehydrogenase deficiency

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 in the mitochondria.  MCAD deficiency affects the body’s ability to …

Short-chain Acyl-CoA Dehydrogenase Deficiency – Inborn Errors of Metabolism

Inborn errors of metabolism - SCADD

  SCAD Deficiency Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a disorder of fatty acid oxidation and mitochondrial energy production.  Think back to high school biology class when you learned that the mitochondria are the cellular “powerhouse”, making ATP or energy for our body.  That process of ATP production can begin with either glucose (sugar) …