Hereditary Fructose Intolerance

What this deck covers

Hereditary Fructose Intolerance in fourteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fourteen cases you are asked to choose between options such as: Aldolase B, Aldolase A, Selective intolerance to lactose-containing formula, Aversion to all solid foods equally, Spontaneous aversion to sweet-tasting foods, Worsening symptoms exclusively after high-protein meals, Fructose, along with sucrose and sorbitol, Hepatomegaly with a firm, enlarged liver edge, Isolated splenomegaly with normal liver size, Ascites as the primary finding without hepatomegaly, A completely normal abdominal examination, Insulin hypersecretion triggered by fructose ingestion, Autoimmune destruction of pancreatic beta cells, Impaired intestinal glucose absorption, IV fructose tolerance test (fructose challenge), Serum fructose level measurement, Urine fructose quantification alone, Type 1 diabetes mellitus, Maple syrup urine disease, Restrict fructose only when clinically symptomatic, Oral penicillin-based solid tablet antibiotics, Inhaled corticosteroids (dry powder inhalers), Plain vitamin D drops specifically formulated sugar-free, MMR (measles-mumps-rubella) combined vaccine, Hepatitis B vaccine, Rotavirus oral vaccines (Rotarix and RotaTeq).

Clinical pearls from this deck

• Aldolase B cleaves fructose-1-phosphate in the liver. Without it F-1-P accumulates, causing direct hepatotoxicity and blocking glucose release. The gene is ALDOB on chromosome 9q22, inherited autosomal recessively.
• Spontaneous aversion to sweets is the pathognomonic history. These children learn very quickly that sweet food causes immediate pain and vomiting, and develop a self-protective avoidance long before anyone makes the diagnosis.

The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.