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

Da Lozzo, Prisca
•
Magnolato, Andrea
•
Del Rizzo, Irene
altro
Barbi, Egidio
2019
  • journal article

Periodico
JOURNAL OF ADOLESCENT HEALTH
Abstract
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.
DOI
10.1016/j.jadohealth.2018.07.014
Archivio
http://hdl.handle.net/11368/2936135
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054722601
https://www.sciencedirect.com/science/article/pii/S1054139X18303045?via%3Dihub
Diritti
closed access
license:copyright editore
FVG url
https://arts.units.it/request-item?handle=11368/2936135
Soggetti
  • Eating disorder

  • Hereditary fructose i...

  • Metabolic disease

  • Misdiagnosi

  • Pediatrics, Perinatol...

  • Public Health, Enviro...

  • Psychiatry and Mental...

Scopus© citazioni
3
Data di acquisizione
Jun 7, 2022
Vedi dettagli
google-scholar
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