Cytochrome P450 oxidoreductase deficiency
Medical condition / From Wikipedia, the free encyclopedia
Cytochrome P450 oxidoreductase deficiency (PORD)[1] is a rare disease and inborn error of metabolism caused by deficiency of cytochrome P450 oxidoreductase (POR). POR is a 2-flavin protein that is responsible for the transfer of electrons from NADPH to all 50 microsomal cytochrome P450 (CYP450) enzymes.[2][3] This includes the steroidogenic enzymes CYP17A1 (17α-hydroxylase/17,20-lyase), CYP19A1 (aromatase), and CYP21A2 (21-hydroxylase); CYP26B1 (metabolizes retinoic acid); and the hepatic drug-metabolizing CYP450 enzymes (e.g., CYP3A4),[4] among many other CYP450 enzymes.[3] Virilization of female infants in PORD may also be caused by alternative biosynthesis of 5α-dihydrotestosterone via the so-called "androgen backdoor pathway".[5][6] The ABS component of severe forms of PORD is probably caused by CYP26B1 deficiency, which results in retinoic acid excess and defects during skeletal embryogenesis.[3] All forms of PORD in humans are likely partial, as POR knockout in mice results in death during prenatal development.[3]
Cytochrome P450 oxidoreductase deficiency | |
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Other names | PORD |
Specialty | Endocrinology |