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: October 30, 2025 Introduction to ALA Dehydratase Deficient Porphyria, ADP ALA dehydratase deficient porphyria (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...
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...