Definition:
Hereditary fructose intolerance (HFI) or fructose poisoning is a hereditary condition that results from a deficiency of liver enzymes that metabolise fructose. This is also known as hereditary fructosemia, or fructose in the blood.
Diagnosis:
Tests that confirm the diagnosis include blood clotting tests, blood sugar test, enzyme studies, genetic testing, urinalysis, uric acid blood test, liver biopsy, and kidney function tests.
Treatment:
Complete elimination of fructose and sucrose from the diet is an effective treatment for most individuals. Individual complications are treated as needed. For example, some patients can take medication to lower the level of uric acid in their blood and thereby reducing their risk for gout.
Symptoms and Signs:
Symptoms can be seen after an infant starts eating food or formula.
The initial symptoms of fructose intolerance are similar to those of galactosemia. Other symptoms include conculsions, irritability, excessive sleepiness, jaundice, poor feeding as a baby, problems after eating fruits and fructose/sucrose-containing foods, and vomiting.
Causes:
The deficient enzyme is aldolase-B, which turns fructose-1-phosphate into DHAP and glyceraldehyde. This means that the fructose cannot be metabolized further beyond fructose-1-phosphate. This traps phosphates which are required to phosphorylate glycogen phosphorylase which carries on to release units of glucose-1-phosphate from glycogen.
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hereditaryfructoseintolerance
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