Rasburicase response

Rasburicase is a drug that lowers uric acid levels and is used to treat or prevent hyperuricemia. It is contraindicated in patients with G6PD deficiency, a condition resulting from variants within the G6PD gene, which increases susceptibility to hemolytic anemia. Although the presence of known G6PD genetic variants may be able to be used to establish a diagnosis of G6PD deficiency, in most cases, a red blood cell G6PD enzyme activity assay remains required to assign G6PD status. Therapeutic guidelines for rasburicase based on G6PD genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.

PharmGKB