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Da Lozzo, Prisca; Magnolato, Andrea; Del Rizzo, Irene; Sirchia, Fabio; Bruno, Irene; Barbi, Egidio
Journal of adolescent health, January 2019, 2019-01-00, 20190101, Volume: 64, Issue: 1Journal Article
Hereditary fructose intolerance is an autosomal recessive disorder of fructose metabolism caused by catalytic deficiency of aldolase B enzyme 1. The disease is typically expressed when fructose- and sucrose-containing foods are first introduced in the diet; acute manifestations include nausea, vomiting, abdominal distress, and symptomatic hypoglycemia 1,2. Chronic fructose ingestion eventually leads to poor feeding, growth retardation and gradual liver and/or renal failure 3,4. Some patients may remain undiagnosed until adulthood because of a self-protective avoidance of sweet tasting food that prevents the development of acute toxicity from fructose containing food; however, these subjects may suffer intermittent symptoms throughout life, leading to potentially serious misdiagnosis 4. We report the case of a patient with unrecognized hereditary fructose intolerance in which chronic gastrointestinal complaints, low body weight, and unexplained food avoidance were addressed as manifestations of an eating disorder during adolescence.
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