Hartnup disease
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Notes
Hartnup disease
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
Hartnup disease
Flashcards
0 / 10 complete
USMLE® Step 1 questions
0 / 2 complete
High Yield Notes
7 pages
Flashcards
Hartnup disease
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
| Urine | |
| Erythrocytes | 0/hpf |
| Leukocytes | 10/hpf |
| Sediment | None |
| Urine chromatography | Neutral amino acids |
Genetic testing is performed and the diagnosis is confirmed. Which of the following is the most likely pathological mechanism of this patient’s condition?
External References
First Aid
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2016
Hartnup disease p. 65
vitamin B3 deficiency p. 65
Summary
Hartnup disease is a rare autosomal recessive disorder in which a transport protein necessary for the absorption of neutral amino acids is defective. So, Hartnup disease is associated with impaired absorption of neutral amino acids such as tryptophan, which is responsible for synthesizing vitamin B3. This results in vitamin B3 deficiency, presenting symptoms of pellagra ( diarrhea, dermatitis, dementia), cerebellar ataxia, and seizures.
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