Hartnup disease
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Summary of Hartnup disease
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids, particularly tryptophan, an amino acid necessary for production of niacin and serotonin.
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Biochemistry and nutrition
Biochemistry
Biochemistry and metabolism
Glycolysis
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Pentose phosphate pathway
Physiological changes during exercise
Amino acid metabolism
Nitrogen and urea cycle
Fatty acid synthesis
Fatty acid oxidation
Ketone body metabolism
Cholesterol metabolism
Metabolic disorders
Essential fructosuria
Hereditary fructose intolerance
Galactosemia
Pyruvate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Lactose intolerance
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
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Krabbe disease
Gaucher disease (NORD)
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Fabry disease (NORD)
Tay-Sachs disease (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Cystinosis
Hartnup disease
Alkaptonuria
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Cystinuria (NORD)
Homocystinuria
Maple syrup urine disease
Abetalipoproteinemia
Familial hypercholesterolemia
Hypertriglyceridemia
Hyperlipidemia
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
Disorders of amino acid metabolism: Pathology review
AssessmentsHartnup disease
Hartnup disease
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Flashcards
Hartnup disease
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Questions
USMLE® Step 1 style questions USMLE
1 questions
USMLE® Step 2 style questions USMLE
1 questions
Preview
A 12-year-old girl comes to the emergency department because of a sudden onset rash across her body. The rash appeared after she played outside under the sun for 35 minutes. She also says she has double vision. Physical examination shows dry, scaly, well-marginated eruptions on the face, backs of the hands, and lower back. When asked to walk, her gait is wide and unsteady. Supplementation of which of the following nutrients is the most appropriate treatment?
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