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

Inborn Errors of  Metabolism…  Scary sounding name for a group of different inherited disorders that affect a person’s ability to metabolize various foods or substances.  Most of these disorders are inherited as “autosomal recessive” meaning that a person needs to have two recessive alleles to have the disease. SCADD overview Short Chain Acyl-CoA Dehydrogenase Deficiency …