Last Updated: October 23, 2025 The Pyruvate Dehydrogenase Complex (PDHc) As the name of the disorder implies, the pyruvate dehydrogenase complex deficiencies represent a family of disorders caused by mutations in genes encoding subunits of the pyruvate dehydrogenase...
Last Updated: October 30, 2025 Introduction Galactose metabolism disorders result from the inheritance of mutations in genes encoding the enzymes of galactose metabolism. Metabolism of galactose allows the carbons to enter the pathway of glycolysis. Galactose...
Last Updated: October 7, 2025 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...
Last Updated: October 30, 2025 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: October 30, 2025 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 30, 2025 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: October 30, 2025 Introduction to GLUT1 Deficiency Syndrome, GLUT1DS GLUT1 deficiency syndrome type 1 (GLUT1DS; also identified as GLUT1DS1) is an autosomal dominant disorder where over 90% of cases represent the appearance of a new mutation, i.e. no...
Last Updated: October 30, 2025 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: October 30, 2025 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 originally...
Last Updated: October 30, 2025 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...