P450 oxidoreductase (POR) deficiency (ORD) is caused by mutations in the co-factor enzyme, POR. POR facilitates steroid and sterol synthesis and provides electrons to all major drug-metabolizing CYP enzymes. Therefore it is conceivable that mutant POR could disrupt drug and xenobiotic metabolism, Clinically, mutant POR results in disordered sex development (DSD) and glucocorticoid deficiency. Individuals affected by ORD also often present with skeletal malformations.

Tomalik-Scharte and colleagues studied an adult patient with ORD and her clinically unaffected, heterozygous mother to better understand the significance of mutant POR on drug metabolism. They studied the activities of five major drug-metabolizing CYP enzymes in these two patients who carried the POR variant A287P.

Their results provide in vivo evidence for an important role of POR in regulating drug metabolism and detoxification. Tomailk-Scharte et al. (2010) European Journal of Endocrinology 163 6 919-924.

Read the full article at DOI: 10.1530/EJE-10-0764.