Alkaptonuria

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Alkaptonuria

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

Assessments

Alkaptonuria

Flashcards

0 / 11 complete

USMLE® Step 1 questions

0 / 1 complete

High Yield Notes

7 pages

Flashcards

Alkaptonuria

of complete

Questions

USMLE® Step 1 style questions USMLE

of 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?  

External References

First Aid

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2016

Alkaptonuria p. 81, 81

Arthralgias

alkaptonuria p. 82

Sclerae p. 553

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.

Elsevier

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