Ontology highlight
ABSTRACT:
SUBMITTER: Madigan KE
PROVIDER: S-EPMC10819203 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
Madigan Katelyn E KE Rudnick Sean R SR Agnew Matthew A MA Urooj Numra N Bonkovsky Herbert L HL
Pharmaceuticals (Basel, Switzerland) 20231225 1
Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis. A closely related condition, X-linked protoporphyria (XLP), bears similar clinical features although it arises from the heightened activity of δ-aminolevulinic acid synthase 2 (ALAS2), the first and normally rate-controlling enzyme in heme biosynthesis in developing red blood cells. Both of these abnormalities result in the buildup of pr ...[more]