Diseases and Disorders, Disorders of Metal Transport and Metabolism
Last Updated: October 31, 2025 Introduction to Hemochromatosis Hemochromatosis is defined as a disorder in iron metabolism that is characterized by excess iron absorption, saturation of iron-binding proteins and deposition of hemosiderin (amorphous iron deposits) in...
Diseases and Disorders, Disorders of Fatty Acid Metabolism
Last Updated: October 30, 2025 Introduction to VLCAD Deficiency The very long-chain acyl-CoA dehydrogenase (VLCAD) enzyme is a member of the fatty acyl-CoA dehydrogenase family. The fatty acyl-CoA dehydrogenases are FAD-dependent enzymes involved in the first step of...
Diseases and Disorders, Porphyrias and Bilirubinemias
Last Updated: October 30, 2025 Introduction to X-Linked Sideroblastic Anemia, XLSA X-linked sideroblastic anemia (XLSA) is a recessive disorder that results from deficiencies in the erythroid-specific form of δ-aminolevulinic acid synthase (also called...
Diseases and Disorders, Diseases of Carbohydrate Metabolism, Glycogen Storage Diseases
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...
Diseases and Disorders, Diseases of Carbohydrate Metabolism, Glycogen Storage Diseases
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...
