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).
Last Updated: September 15, 2022 Introduction to Rotor Syndrome Rotor syndrome is an autosomal recessive condition that belongs to a family of disorders that result as a consequence of defects in the metabolism and/or excretion of bilirubin. Bilirubin is the...
Last Updated: September 15, 2022 Introduction to Dubin-Johnson Syndrome Dubin-Johnson syndrome is an autosomal recessive disorder that belongs to a family of disorders that result as a consequence of defects in the metabolism and/or excretion of bilirubin. Bilirubin...
Last Updated: September 15, 2022 Introduction to Crigler-Najjar Syndromes The Crigler-Najjar syndromes (CNS) belong to a family of autosomal recessive disorders that result as a consequence of defects in the metabolism and/or excretion of bilirubin. Bilirubin is the...
Last Updated: September 15, 2022 Introduction to Gilbert Syndrome Gilbert (pronounced "zheel-BAIR") syndrome is an autosomal recessive disorder that belongs to a family of disorders that result as a consequence of defects in the metabolism and/or excretion of...
Last Updated: September 15, 2022 Introduction to Erythropoietic Protoporphyria 1 (EPP1) Erythropoietic protoporphyria 1 (EPP1) is disorder that is a member of a family of disorders referred to as the porphyrias. EPP1 can be inherited as an autosomal recessive or...
Last Updated: September 15, 2022 Introduction to Variegate Porphyria Variegate porphyria (VP) is an autosomal dominant disorder that is a member of a family of disorders referred to as the porphyrias. VP is also known by the names porphyria variegata,...
Last Updated: September 15, 2022 Introduction to Hereditary Coproporphyria, HCP Hereditary coproporphyria (HCP) results from deficiencies in a specific enzyme involved in the biosynthesis of heme (also called the porphyrin pathway). The term porphyria is...
Last Updated: May 7, 2024 Introduction to Porphyria Cutanea Tarda Porphyria cutanea tarda (PCT) is an autosomal dominant 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...
Last Updated: September 15, 2022 Introduction to Congenital Erythropoietic Porphyria Congenital erythropoietic porphyria, CEP (also referred to as Günther disease) is inherited as an autosomal recessive disorder. CEP a disorder that is a member of a family of...
Last Updated: May 7, 2024 Introduction to Acute Intermittent Porphyria Acute intermittent porphyria (AIP) is a 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 specific enzyme...