Essential fructosuria

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Summary of Essential fructosuria

Essential fructosuria caused by a deficiency of the enzyme hepatic fructokinase is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine. Fructokinase is the first enzyme involved in the degradation of fructose to fructose-1-phosphate in the liver. This deficiency does not cause any clinical symptoms, as fructose is either excreted unchanged in the urine or metabolized to fructose-6-phosphate by alternate pathways in the body, most commonly by hexokinase in adipose tissue and muscle.

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Essential fructosuria

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NOTES NOTES CARBOHYDRATE METABOLISM DISORDERS GENERALLY, WHAT ARE THEY? PATHOLOGY & CAUSES ▪ Inherited disorders of carbohydrate metabolism (fructose, glucose, galactose) ▪ Determined by exposure to external triggers (e.g. dietary factors) ▪ Disruption in certain metabolic pathways → accumulation of byproducts → systemic alterations, organ failures SIGNS & SYMPTOMS ▪ See individual disorders DIAGNOSIS LAB RESULTS ▪ Enzymatic dosage OTHER DIAGNOSTICS ▪ Genetic testing TREATMENT OTHER INTERVENTIONS ▪ Avoid triggers ESSENTIAL FRUCTOSURIA osms.it/essential-fructosuria PATHOLOGY & CAUSES ▪ Benign disease; impaired fructose metabolism → increased excretion in urine CAUSES ▪ Autosomal recessive mutation in fructokinase, AKA ketohexokinase (KHK) ▫ First enzyme in fructose metabolism ▪ Intake of fructose-rich food/fructose-related sugar (e.g. sucrose, sorbitol) → increase of fructose in blood → excretion of fructose in urine SIGNS & SYMPTOMS ▪ Asymptomatic 238 OSMOSIS.ORG DIAGNOSIS LAB RESULTS ▪ Positivity for reducing substances in urine TREATMENT OTHER INTERVENTIONS ▪ No treatment necessary

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Essential fructosuria

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Essential fructosuria is an autosomal (dominant/recessive) disorder.

Questions

USMLE® Step 1 style questions USMLE

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A 7-year-old girl with a history of appendectomy comes to the emergency department because of crampy abdominal pain for the past half hour. Her parents deny that anyone else in the household is sick and are not aware of any sick contacts at school. Physical examination shows diffuse, mild abdominal tenderness and absent bowel sounds. An abdominal radiograph shows multiple air-fluid levels in the small bowel. A urinalysis shows an elevated specific gravity but no other abnormalities. Further laboratory analysis shows elevated levels of a reducing sugar in the urine. An enzyme deficiency is suspected. Which of the following compounds is the most likely product of the enzyme in question?

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