Fructosaemia

Amino Acid Metabolism in Hereditary Fructosemia

“…Hereditary fructosemia is not a relatively benign condition as previously suggested, since lethal cases are reported (11,12,15). The severity of the symptoms will depend upon the age when fructose ingestion is started.…”

“…The continued ingestion of fructose may result in cirrhosis of the liver, ascites, edema, brain damage, convulsions and even death (4, 11,12,15). The clinical and biochemical findings are similar to the findings in other metabolic diseases (1 1).…”

Asymptomatic Massive Hepatomegaly and Steatosis in a Toddler

“…In early infancy, giant cell hepatitis, intracanalicular cholestasis, bile duct proliferation, and a biliary pattern of cirrhosis have been reported (5). Beyond early infancy, diffuse pronounced macrovesicular steatosis and fibrosis (portal ± lobular) may predominate, as were seen in this patient (5–7). After being informed of the diagnosis of HFI, the mother further reported that her husband also avoided sweets, as did their shared grandmother.…”

Manifestation of hereditary fructose intolerance.

“…The diagnosis in Case 1 was not made in life, but is strongly suggested in retrospect by his relationship to Case 2 and by the distinctive hepatic changes seen at necropsy, which are similar to those reported in fatal cases in older infants. Hepatocellular damage, a prominent been a prolongation of the prothrombin time, but one of the seven cases reported by Levin et al (1968) had a low plasma fibrinogen level. In one of our patients bleeding was the initial and lethal symptom, and in the other full investigation of the cause of bleeding pointed to a diagnosis of a metabolic disorder.…”