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ochronosis CHORUS

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Location: http://chorus.rad.mcw.edu/doc/00016.html

Description: aka: alkaptonuria
* autosomal recessive
* excessive homogentisic acid
o no homogentisic acid oxidase
o part of phenylalanine / tyrosine pathway
* alkaptonuria: brown/black urine
* ochronosis: brown/black pigmentation of skin, mucous membranes
* pigment deposition in articular cartilage of joints
o ==> chronic arthritis (usually evident in 4th decade)
* narrowed, calcified intervertebral disks
* renal calculi
* nephrocalcinosis

Type: Reference Material
Author/Contact: Charles E. Kahn, Jr., MD
Institution: CHORUS
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 629
Added: Thu Jan 31 2002
Last Modified: Wed Jul 29 2009