Hereditary Fructose Intolerance (HFI) (Fructose 1-Phosphate Aldolase Deficiency) Clinical Presentation

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

History

As in other autosomal recessive disorders, a pedigree is unlikely to reveal other family members with fructose 1-phosphate aldolase deficiency. Individuals who are obligate heterozygotes do not demonstrate the symptoms of hereditary fructose intolerance (HFI).

Because the history may be vital to any diagnosis, the importance of taking an extensive dietary history, especially in individuals with hereditary fructose intolerance, cannot be overemphasized. Many soy formulas contain sucrose as a carbohydrate source that may supply enough fructose to cause clinical symptoms.

Some affected infants refuse all sweets after becoming ill early in life; thus, a history of food rejection is also important.

Next:

Physical Examination

A clinically well patient demonstrates no abnormal physical findings.

Acutely ill children are often tachypneic because of acidosis. They have enlarged livers and are slightly-to-moderately icteric. Accompanying hypoglycemia may cause tremors or seizures, as well as diaphoresis.

Abdominal pain may be observed. [11]

Exceptionally good dental hygiene is a common feature among children with hereditary fructose intolerance, presumably because of diminished carbohydrate intake.

Previous
Next:

Causes

Hereditary fructose intolerance is inherited as an autosomal recessive trait. The gene has been mapped to one locus, band 9q22.3.

As of 2015, more than 60 mutations have been reported at this locus, most of them single-base substitutions. [12, 13]

Previous
Next:

Complications

Hypoglycemia, if sufficiently severe, may result in diminished intellectual capacity.

Hepatocellular damage and fibrosis may result in cirrhosis.

Severe metabolic acidosis may result in hypoperfusion and serious organ damage.

Previous