Study of Hereditary Fructose Intolerance by Use of 31p Magnetic Resonance Spectroscopy

Oberhaensli, Rolf D.; Taylor, Doris J.; Rajagopalan, B.; Radda, G. K.; Collins, J. E.; Leonard, J. V.; Schwarz, Hans‐Peter; Herschkowitz, N

doi:10.1016/s0140-6736(87)91419-x

Cited by 89 publications

(45 citation statements)

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“…The parents, as expected for obligate heterozygotes, along with some of the siblings and other clinically unaffected family members showed a similar pattern in response to much larger doses of oral fructose (6). Of special interest was the finding of clinical gout in three of the nine heterozygotes identified by MR spectroscopy (6).…”

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confidence: 57%

“…There is considerable variation in the peak changes induced by fructose seen in heterozygotes for hereditary fructose intolerance and controls (6). Since the fructose is given orally, there is likely to be some biological variation in the rates of absorption of the fructose.…”

Section: Resultsmentioning

confidence: 99%

“…By using conventional biochemical tests, only intestinal biopsy has provided a method for the detection of heterozygotes (5). However, heterozygotes were readily identified noninvasively in studies of affected and unaffected family members by using in vivo 31p magnetic resonance (MR) spectroscopy of the liver before and after an oral fructose load (6). The homozygous affected children showed a marked increase in the phosphomonoester (PME) peak and a substantial decrease in the peak for inorganic phosphate (Pi) in response to very low doses of oral fructose.…”

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confidence: 99%

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confidence: 99%

“…Of special interest was the finding of clinical gout in three of the nine heterozygotes identified by MR spectroscopy (6). The calculated incidence of the heterozygote in the European population [1/80 in Switzerland (3) to 1/250 in Great Britain (6)] is of sufficient frequency to account for a significant portion of gout patients. Infusion of fructose increases serum urate in normal children, in children with hereditary fructose intolerance (7), and in gouty and nongouty adult volunteers (7,8).…”

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Fructose-induced aberration of metabolism in familial gout identified by 31P magnetic resonance spectroscopy.

Seegmiller

Dixon

Kemp

et al. 1990

Proc. Natl. Acad. Sci. U.S.A.

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The hyperuricemia responsible for the devel-.pment 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 Hereditary fructose intolerance is known to be associated with hyperuricemia although the major clinical manifestations, as the name implies, have to do with severe or even fatal adverse reactions to ingested fructose as a result of a recessively inherited defect of aldolase B, resulting in loss of its capacity to split fructose 1-phosphate (3). A publication (4) has claimed the putative identification of the abnormal gene for fructose intolerance. By using conventional biochemical tests, only intestinal biopsy has provided a method for the detection of heterozygotes (5). However, heterozygotes were readily identified noninvasively in studies of affected and unaffected family members by using in vivo 31p magnetic resonance (MR) spectroscopy of the liver before and after an oral fructose load (6). The homozygous affected children showed a marked increase in the phosphomonoester (PME) peak and a substantial decrease in the peak for inorganic phosphate (Pi) in response to very low doses of oral fructose.The parents, as expected for obligate heterozygotes, along with some of the siblings and other clinically unaffected family members showed a similar pattern in response to much larger doses of oral fructose (6). Of special interest was the finding of clinical gout in three of the nine heterozygotes identified by MR spectroscopy (6). The calculated incidence of the heterozygote in the European population [1/80 in Switzerland (3) to 1/250 in Great Britain (6)] is of sufficient frequency to account for a significant portion of gout patients. Infusion of fructose increases serum urate in normal children, in children with hereditary fructose intolerance (7), and in gouty and nongouty adult volunteers (7,8).In the present study, MR spectroscopy was used to monitor the changes induced by a 50-g load of oral fructose in the Pi and PME peaks in the liver of a group of 11 volunteers with familial gout. In addition, an indication of the magnitude of endogenous uric acid production ofeach patient was obtained and t...

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confidence: 57%

Section: Resultsmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%