TY - JOUR T1 - When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report. JF - J Adolesc Health Y1 - 2019 A1 - Da Lozzo, Prisca A1 - Magnolato, Andrea A1 - Del Rizzo, Irene A1 - Sirchia, Fabio A1 - Bruno, Irene A1 - Barbi, Egidio AB -

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.

VL - 64 IS - 1 U1 - http://www.ncbi.nlm.nih.gov/pubmed/30327278?dopt=Abstract ER -