BOF 48
Alkaptonuria, all are true except:
1-an autosomal recessive disorder due to deficiency of
the enzyme homogentisic acid oxidase
2-renal stones are rare
3-interverteberal disc calcification
4-dark sweat stained clothing
5-pale pinnae
Answer 5
1-true, causing accumulation of homogentisic acid
polymers and deposition in cartilage and soft tissues
2-also aortic valve disease and ocular involvement are
rare
3-and arthritis
4-and dark –black urine
5-false, pigmentation of the pinnae
Remember, there is no specific treatment, only
symptomatic e.g. for the arthritis
Revision Tip
Revise
alkaptonuria KEYS to SUCCESS in Medicine
page 63-64