ArticleJPGN reports2026
Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent.
Article in JPGN reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13-year-old female with chronic abdominal pain, short stature, and persistent mild transaminitis. Despite a late presentation, hepatic steatosis was identified on ultrasound and biopsy. Genetic testing confirmed a homozygous pathogenic ALDOB variant. This case illustrates that self-imposed dietary avoidance can mask classic HFI symptoms, leading to a delayed diagnosis of "lean" hepatic steatosis in adolescence.
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