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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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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