Alkaptonuria
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Alkaptonuria
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
0 / 11 complete
USMLE® Step 1 questions
0 / 1 complete
CME Credits
0.25 / 0.5 complete
High Yield Notes
7 pages



Flashcards
Alkaptonuria
0 of 11 complete
Questions
USMLE® Step 1 style questions USMLE
0 of 1 complete
A 50-year-old man comes to the clinic for evaluation of chronic back pain. He works as a librarian and notes that the pain is localized to his lower back and worsens after a long day of standing. The pain has not improved despite treatment with ibuprofen. Past medical history is significant for osteoarthritis of his right hip, for which he underwent a total hip replacement 2 years ago. Family history is noncontributory. Temperature is 37.0°C (98.6°F), pulse is 86/min, respirations are 16/min, and blood pressure is 125/85 mmHg. Ophthalmic examination reveals a bluish pigment deposition in the sclera. Dermatological examination reveals hyperpigmentation in the axillary and inguinal regions. Range of motion at the spine is limited. An x-ray of the erect spine is shown below:
Osmosis High-Yield Notes
Laboratory evaluation reveals elevated levels of homogentisic acid. The production of which of the following end products is likely to be inhibited, considering the most likely diagnosis?
Osmosis High-Yield Notes
Laboratory evaluation reveals elevated levels of homogentisic acid. The production of which of the following end products is likely to be inhibited, considering the most likely diagnosis?
External References
First Aid
2024
2023
2022
2021
Alkaptonuria p. 81, 81
Arthralgias
alkaptonuria p. 82
Sclerae p. 549
alkaptonuria p. 82
Summary
Alkaptonuria is a rare inherited disorder in which a deficiency of an enzyme called homogentisate 1,2 dioxygenase - HGD, results in the accumulation of homogentisic acid in connective tissues. This build-up causes arthritis, increased risk for the formation of renal and gallbladder stones, and the risk of tendon and ligament ruptures. People with alkaptonuria can also present with vision and hearing problems, and have dark urine.