Hereditary fructose intolerance
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Hereditary fructose intolerance
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
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Flashcards
Hereditary fructose intolerance
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Questions
USMLE® Step 1 style questions USMLE
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An 8-month-old male infant is brought to the emergency department for evaluation of failure to thrive. One month ago, the patient began vomiting after feedings and experienced weight loss. The patient has also had several visits to the pediatric emergency department following seizure episodes despite having no fever or signs of infection. The patient has appeared more tired than usual and is no longer interested in watching cartoons or playing with his parents. The patient’s diet consisted of breast milk until the patient reached 7 months of age. Afterwards, small servings of pureed fruits, ground meat, and juice were added to the patient’s diet. The patient is currently at the 25th percentile for weight, whereas at his 4 month check-up, he was at the 45th percentile. Temperature is 37.0°C (98.6°F), blood pressure is 91/49 mmHg, pulse is 110/min, and respiratory rate is 44/min. Physical examination is notable for hepatomegaly and jaundice of the skin. Urine dipstick is negative for glucose. Which of the following findings is most likely to be found on further evaluation?
External References
First Aid
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Cirrhosis p. 396
fructose intolerance p. 78
Fructose intolerance p. 78
Hypoglycemia
fructose intolerance p. 78
Jaundice p. 400
fructose intolerance p. 78
Vomiting
fructose intolerance p. 78
Summary
Hereditary fructose intolerance is an autosomal recessive genetic disorder in which there is a deficiency of the aldolase B enzyme, which leads to the accumulation of fructose 1-phosphate. People with hereditary fructose intolerance present with severe hypoglycemia, vomiting, hepatomegaly, and renal failure.