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Lesch-Nyhan Syndrome as related to Alkaptonuria


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Choreoathetosis self-mutilation hyperuricemia syndrome; Complete HPRT deficiency; Complete hypoxanthine-guanine phosphor... 

AKU; Alcaptonuria; Alkaptonuric ochronosis; Homogentisic acid oxidase deficiency; Homogentisic acidura; Ochronosis; Ochr... 

Lesch-Nyhan syndrome is a condition characterized by the overproduction of uric acid (a chemical formed from the breakdown of DNA or RNA), problems with the nervous system, and behavioral disturbances. The overproduction of uric acid can cause gouty arthritis (arthritis caused by uric acid in the joints), as well as kidney and bladder stones. Abnormal involuntary muscle movements such as flexing, jerking, flinging, and flailing are often displayed. Self-injury through biting and head banging is ...

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. People with alkaptonuria typically develop arthritis in adulthood, particularly in the spine and large joints.


Lesch-Nyhan Syndrome as related to Alkaptonuria


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November 28, 2009


Page Updated: January 17, 2009
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