HPRT and Gout
Title: Normal HPRT coding region in a male with
gout due to HPRT deficiency
Authors: Dawson et al
Publication: Mol Genet Metab. 2005 May;85(1):78-80.
Epub 2005 Feb 16.
A deficiency of the hypoxanthine-guanine phosphoribosyltransferase
(or HPRT) enzyme is associated with a range of diseases including
gouty arthritis. To date, all cases of HPRT deficiency is due
to mutation within the HPRT gene. The authors reported the first
case of a patient with gout due to HPRT deficiency, but with normal
HPRT gene. It appears that the patient’s HPRT deficiency
is due to defect in the regulation of the gene, rather than a
mutation in the gene itself.