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Phenylketonuria as related to Alkaptonuria


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Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Phenylalanine Hydroxylase Def... 

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

Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland.

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.


Phenylketonuria as related to Alkaptonuria


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November 23, 2009


Page Updated: January 17, 2009
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