Essential fructosuria

Biochemistry

Biochemistry and metabolism

Amino acid metabolism
Nitrogen and urea cycle
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Glycolysis
Pentose phosphate pathway
Physiological changes during exercise
Cholesterol metabolism
Fatty acid oxidation
Fatty acid synthesis
Ketone body metabolism

Metabolic disorders

Alkaptonuria
Cystinuria (NORD)
Hartnup disease
Homocystinuria
Maple syrup urine disease
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Essential fructosuria
Galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hereditary fructose intolerance
Lactose intolerance
Pyruvate dehydrogenase deficiency
Abetalipoproteinemia
Familial hypercholesterolemia
Hyperlipidemia
Hypertriglyceridemia
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Fabry disease (NORD)
Gaucher disease (NORD)
Krabbe disease
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Tay-Sachs disease (NORD)
Cystinosis
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review

Assessments

Flashcards

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USMLE® Step 1 questions

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High Yield Notes

3 pages

Flashcards

Essential fructosuria

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Questions

USMLE® Step 1 style questions USMLE

0 of 1 complete

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?  

External References

First Aid

2024

2023

2022

2021

Essential fructosuria p. 78

Fructosuria p. 78

Summary

Essential fructosuria is a benign autosomal recessive disorder in which there is a deficiency caused by a deficiency fructokinase enzyme. People with essential fructosuria don't metabolize fructose properly after ingesting a fructose-rich diet, causing it to be in urine, hence the name fructosuria.