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Essential fructosuria

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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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Essential fructosuria

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High Yield Notes
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Essential fructosuria

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

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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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