Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B.[1] Individuals affected with HFI are asymptomatic until they ingest fructose, sucrose, or sorbitol. If fructose is ingested, the enzymatic block at aldolase B causes an accumulation of fructose-1-phosphate which, over time, results in the death of liver cells.[1] This accumulation has downstream effects on gluconeogenesis and regeneration of adenosine triphosphate (ATP).[1] Symptoms of HFI include vomiting, convulsions, irritability, poor feeding as a baby, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia and potentially kidney failure.[1] While HFI is not clinically a devastating condition, there are reported deaths in infants and children as a result of the metabolic consequences of HFI. Death in HFI is always associated with problems in diagnosis.[2]
HFI is an autosomal recessive condition caused by mutations in the ALDOB gene, located at 9q31.1.[3] HFI is typically suspected based on dietary history, especially in infants who become symptomatic after breast feeding.[4] This suspicion is typically confirmed by molecular analysis[1] Treatment of HFI involves strict avoidance of fructose in the diet.[1] Older patients with HFI typically self-select a diet low in fructose, even before being diagnosed.[4]
^ abcdef"Hereditary fructose intolerance". Genetic and Rare Disorders Information Center (GARD). National Institutes of Health. Retrieved April 17, 2018.
^Kaiser, Ursula B.; Hegele, Robert A. (December 1991). "Case report: Heterogeneity of aldolase B in hereditary fructose intolerance". The American Journal of the Medical Sciences. 302 (6): 364–8. doi:10.1097/00000441-199112000-00008. PMID 1772121.
^"ALDOB gene". Genetics Home Reference. U.S. National Library of Medicine. Retrieved April 17, 2018.
^ abGaughan S, Ayres L, Baker PR II (2021). "Hereditary Fructose Intolerance". (GeneReviews® [Internet]). Seattle: University of Washington. PMID 26677512. NBK333439.
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