Fructose-induced aberration of metabolism in familial gout identified by sup 31 P magnetic resonance spectroscopy
- John Radcliffe Hospital, Oxford (England) Univ. of California, San Diego (United States)
- John Radcliffe Hospital, Oxford (England)
- John Radcliffe Hospital, Oxford (England) Austin Hospital, Heidelburg, Victoria (Australia)
- Univ. of Bristol (England)
The hyperuricemia responsible for the development of gouty arthritis results from a wide range of environmental factors and underlying genetically determined aberrations of metabolism. {sup 31}P 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 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 {sup 31}P 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.
- OSTI ID:
- 5702409
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 87:21; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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FRUCTOSE
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NUCLEAR MAGNETIC RESONANCE
METABOLIC DISEASES
PATHOGENESIS
PHOSPHORUS 31
RHEUMATIC DISEASES
BODY
CARBOHYDRATES
DIGESTIVE SYSTEM
DISEASES
GLANDS
HEXOSES
ISOTOPES
KETONES
LIGHT NUCLEI
MAGNETIC RESONANCE
MONOSACCHARIDES
NUCLEI
ODD-EVEN NUCLEI
ORGANIC COMPOUNDS
ORGANS
PHOSPHORUS ISOTOPES
RESONANCE
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550201* - Biochemistry- Tracer Techniques