When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report

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].

Source: Journal of Adolescent Health - October 13, 2018 Category: Child Development Authors: Prisca Da Lozzo, Andrea Magnolato, Irene Del Rizzo, Fabio Sirchia, Irene Bruno, Egidio Barbi Tags: Clinical observations Source Type: research