Hereditary fructose intolerance

Hereditary fructose intolerance (HFI) is an <a href="/facts/Inborn_error_of_metabolism/3oR89Mjj">inborn error</a> of <a href="/facts/Fructose/pEqWJC2N">fructose</a> metabolism caused by a deficiency of the enzyme <a href="/facts/Aldolase_B/vEQkIQXh">aldolase B</a>. Individuals affected with HFI are asymptomatic until they ingest fructose, sucrose, or <a href="/facts/Sorbitol/LA9MsjYb">sorbitol</a>. 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. This accumulation has downstream effects on <a href="/facts/Gluconeogenesis/Jj5THIHh">gluconeogenesis</a> and regeneration of <a href="/facts/Adenosine_triphosphate/nB9bwgcU">adenosine triphosphate</a> (ATP). Symptoms of HFI include vomiting, convulsions, irritability, poor feeding as a baby, <a href="/facts/Hypoglycemia/BlAmuP6k">hypoglycemia</a>, <a href="/facts/Jaundice/TCyoLMJU">jaundice</a>, <a href="/facts/Hemorrhage/CGyFMU0F">hemorrhage</a>, <a href="/facts/Hepatomegaly/zbVkL3aX">hepatomegaly</a>, <a href="/facts/Hyperuricemia/D2R1Sk0M">hyperuricemia</a> and potentially <a href="/facts/Kidney_failure/gsqb5nos">kidney failure</a>. 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.
HFI is an <a href="/facts/Autosomal_recessive/DsvtPyQU">autosomal recessive</a> condition caused by mutations in the ALDOB gene, located at 9q31.1. HFI is typically suspected based on dietary history, especially in infants who become symptomatic after breast feeding. This suspicion is typically confirmed by molecular analysis Treatment of HFI involves strict avoidance of fructose in the diet. Older patients with HFI typically self-select a diet low in fructose, even before being diagnosed.

Hereditary fructose intolerance open-in-new

Hereditary fructose intolerance