CHORUS
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Musculoskeletal system
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ochronosis
aka: alkaptonuria
- autosomal recessive
- excessive homogentisic acid
- no homogentisic acid oxidase
- part of phenylalanine / tyrosine pathway
- alkaptonuria: brown/black urine
- ochronosis: brown/black pigmentation of skin, mucous membranes
- pigment deposition in articular cartilage of joints
- ==> chronic arthritis (usually evident in 4th decade)
- narrowed, calcified intervertebral disks
- renal calculi
- nephrocalcinosis
Charles E. Kahn, Jr., MD - 2 February 1995
Last updated: 1 October 2013
Copyright © 2013, Charles E. Kahn, Jr.
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