The Porphyrias and Bilirubinemias category contains posts/pages that discuss the biochemistry, pathophysiology, and molecular biology of the diseases that result from defects in the pathways of heme biosynthesis (the porphyrias) and catabolism (the bilirubinemias).
Diseases and Disorders, Porphyrias and Bilirubinemias
Last Updated: September 15, 2022 Introduction to ALA Dehydratase Deficient Porphyria, ADP ADP is an autosomal recessive disorder that is a member of a family of disorders referred to as the porphyrias. Each disease in this family results from deficiencies in a...
Diseases and Disorders, Porphyrias and Bilirubinemias
Last Updated: September 15, 2022 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...