Hereditary fructose intolerance

Hereditary fructose intolerance is a metabolic disorder with hereditary determinism in which the small intestine cannot process fructose (fruit sugar) into a source of energy because of an enzyme deficiency that prevents fructose absorption.

It is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods containing fructose and cognate sugars.

Fructose is a simple sugar found naturally in fruits, vegetables, and honey. Synthetic fructose (in the form of corn syrup) is used as a sweetener in many foods, including baby food, and sweetened beverages. Simple sugars can be absorbed by the small intestine.

This autosomal recessive disorder is due to a deficiency of fructose-1-phosphate aldolase activity, that results in the accumulation of fructose-1-phosphate in the liver, small intestine and kidneys.

When people with fructose intolerance ingest fructose or sucrose (cane or beet sugar, table sugar), the undigested fructose accumulates in the liver, kidneys, and small intestine. Untreated, hereditary fructose intolerance may result in renal and hepatic failure.

The clinical picture is dominated by hypoglycemic manifestations (sweating, shakiness, neurologic alteration, from confusion up to delirium, coma and convulsions).
Hereditary fructose intolerance