The
hyperuricemia responsible for the development of
gouty arthritis results from a wide range of environmental factors and underlying genetically determined aberrations of metabolism. 31P magnetic resonance spectroscopy studies of children with
hereditary fructose intolerance revealed a readily detectable rise in phosphomonoesters with a marked fall in
inorganic phosphate in their liver in vivo and a rise in serum
urate in response to very low doses of oral
fructose. Parents and some family members heterozygous for this
enzyme deficiency showed a similar pattern when given a substantially larger dose of
fructose. Three of the nine heterozygotes thus identified also had clinical
gout, suggesting the possibility of this defect being a fairly common cause of
gout. In the present study this same noninvasive technology was used to identify the same spectral pattern in 2 of the 11 families studied with hereditary
gout. In one family, the index patient's three brothers and his mother all showed the
fructose-induced abnormality of metabolism, in agreement with the maternal inheritance of the
gout in this family group. The test dose of
fructose used produced a significantly larger increment in the concentration of serum
urate in the patients showing the changes in 31P magnetic resonance spectra than in the other patients with familial
gout or in nonaffected members, thus suggesting a simpler method for initial screening for the defect.