2024
DOI: 10.3390/diseases12030044
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Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance

Félix Úbeda,
Sonia Santander,
María José Luesma

Abstract: Introduction: Hereditary fructose intolerance or hereditary fructosemia is an autosomal recessive metabolic disorder caused by a loss of function in the aldolase B gene. This disorder affects 1 in 20,000 people, constituting a rare disease with a favorable prognosis through adherence to a fructose-free diet. Despite dietary management, chronic pathology may manifest, underscoring the importance of early diagnosis to mitigate adverse effects. However, early detection of the disease poses significant challenges.… Show more

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Cited by 2 publications
(3 citation statements)
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“…Magnetic resonance imaging confirmed elevated intrahepatic triglyceride levels in HFI cases, partly due to increased de novo lipogenesis in aldolase-deficient mice. These findings suggest potential treatments for HFI, emphasizing the role of fructose metabolism and its implications for liver health [ 18 , 19 , 20 , 21 ].…”
Section: Diagnostics and Treatmentmentioning
confidence: 99%
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“…Magnetic resonance imaging confirmed elevated intrahepatic triglyceride levels in HFI cases, partly due to increased de novo lipogenesis in aldolase-deficient mice. These findings suggest potential treatments for HFI, emphasizing the role of fructose metabolism and its implications for liver health [ 18 , 19 , 20 , 21 ].…”
Section: Diagnostics and Treatmentmentioning
confidence: 99%
“…The cornerstone of treatment is the implementation of appropriate dietary recommendations that involve restricting the intake of fructose, sucrose, sucralose, and sorbitol, thereby preventing the development of symptoms. To ensure long-term dietary compliance, repeated counseling sessions and clear instructions regarding dietary restrictions are essential [ 18 ].…”
Section: Diagnostics and Treatmentmentioning
confidence: 99%
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