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Alkaptonuria

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Term Definition
Alkaptonuria

An inherited condition that causes urine to turn black when exposed to air. Ochronosis, a build-up 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.

Alkaptonuria is caused by changes in the HDG gene which makes an enzyme that helps break down the amino acids phenylalanine and tyrosine. Alkaptonuria is inherited in an autosomal recessive pattern.

Definition from Genetics Home Reference, US National Library of Medicine: Alkaptonuria

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