Hereditary Fructose Intolerance (HFI) (Fructose 1-Phosphate Aldolase Deficiency) Treatment & Management

Updated: Oct 15, 2019
  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

Definitive treatment simply consists of eliminating fructose from the diet. Eliminating fructose early in the disease course totally restores the affected child's health within days, with no residua. However, hepatomegaly may require months to resolve. Prolonged delay in diagnosis may result in cirrhotic changes with subsequent degeneration of function.

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Consultations

Consultation with a biochemical geneticist for molecular diagnosis and a nutritionist for appropriate nutritional counseling is of critical importance to a good outcome.

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Diet

Appropriate treatment consists of elimination of fructose, sorbitol, and sucrose sources, such as fruits and table sugar. Unsuspected sources of these sugars abound. For example, potatoes that are prepared a certain way provide a significant amount of fructose. In addition, many childhood medications contain fructose or sorbitol, the dimer of fructose. For these reasons, a highly trained nutritionist's input is mandatory to properly maintain the health of individuals with this disorder.

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Prevention

Prolonged, albeit minor, dietary indiscretions in growing children may result in acidosis that is severe enough to impair growth.

Hereditary fructose intolerance is an autosomal recessive disorder. Subsequent pregnancies carry a 25% risk of recurrence. Parents and other relatives must receive genetic counseling.

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Long-Term Monitoring

Close dietary monitoring is important for a good outcome and should include at least semiannual visits to a biochemical geneticist and monthly meetings with a nutritionist.

In conjunction with transferrin isoelectric focusing (TfIEF), monitoring of increased aspartylglucosaminidase activity (AGA) could be used in the follow up of patients with hereditary fructose intolerance (HFI). [15]

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Transfer

Infants, particularly young children, may be sufficiently ill to require transfer for supportive care, even after a proper diagnosis has been made. Severe acidosis and hepatocellular dysfunction carry their own rates of morbidity, independent of and despite the reversibility of hereditary fructose intolerance with treatment.

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