Last Updated: November 2, 2023 The Pyruvate Dehydrogenase Complex (PDHc) The PDHc is a mitochondrial enzyme complex responsible for the oxidation of pyruvate to acetyl-CoA. The acetyl-CoA can then be fully oxidized to CO2 and H2O in the TCA cycle. The PDHc is composed...
Last Updated: October 26, 2023 Classic Galactosemia: Type 1 Classic galactosemia refers to a disorder arising from profound deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) and is termed type 1 galactosemia. There are also classified clinical...
Last Updated: July 6, 2023 Essential Fructosuria Essential fructosuria is a benign metabolic disorder caused by the lack of fructokinase (formally termed ketohexokinase, KHK) which is normally present in the liver, pancreatic islets and kidney cortex. The fructosuria...
Last Updated: November 16, 2022 Introduction to Erythrocyte PK Deficiency Deficiency of erythrocyte pyruvate kinase is the most common enzyme deficiency resulting in inherited nonspherocytic hemolytic anemia. In contrast, spherocytic anemia is characterized as an...
Last Updated: December 19, 2022 Introduction to Pyruvate Carboxylase Function Pyruvate carboxylase serves two primary functions, both of which relate to biochemical synthesis pathways. The most important functions for pyruvate carboxylase relate to these biosynthetic...
Last Updated: October 26, 2023 Introduction to G6PD Deficiency Deficiencies in glucose-6-phosphate dehydrogenase (G6PDH; encoded by the G6PD gene) are inherited as X-linked recessive disorders. Glucose-6-phosphate dehydrogenase is found in all cells and is responsible...
Last Updated: September 15, 2022 Introduction to GLUT1 Deficiency Syndrome, GLUT1DS GLUT1 deficiency syndrome-1 (GLUT1DS) is an autosomal dominant disorder where over 90% of cases represent the appearance of a new mutation, i.e. no prior familial involvement. GLUT1DS...
Last Updated: September 15, 2022 Introduction to McArdle Disease Glycogen storage disease type 5 (GSD5) is an autosomal recessive disorder more commonly known as McArdle disease. This disease was originally described by Brian McArdle in 1951, hence the association of...
Last Updated: September 15, 2022 Introduction to Andersen Disease Glycogen storage disease type 4 (GSD4) is more commonly known as Andersen disease or also as amylopectinosis. Andersen disease is inherited as an autosomal recessive disorder. This disease was...
Last Updated: September 15, 2022 Introduction to Cori Disease Glycogen storage disease type 3 (GSD3) is also known as Cori disease, Forbes disease, and limit dextrinosis. Cori disease is inherited as an autosomal recessive disorder. The symptoms associated with Cori...