Essential fructosuria

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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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