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Essential fructosuria

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Essential fructosuria

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Essential fructosuria

7 flashcards
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USMLE® Step 1 style questions USMLE

2 questions
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A 27-year-old woman, gravida 1 para 0, presents to the clinic for a routine evaluation. The patient is at 32-weeks gestational age and is feeling well. Family history is notable for a sibling who passed away from a carbohydrate metabolism disorder in early childhood. The patient cannot recall the details but states, “My sister would get very sick every time she drank juice or ate fruits.” The patient is concerned her unborn child may also have this condition. If the child is affected by the same condition, at what time would symptoms likely first manifest?  

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Summary
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.