A member asked:

Can phenylketonuria (pku) be a chromosomal mutation?

A doctor has provided 1 answer

Sort of: It may be a matter of terminology. Pku is a genetic disorder due to mutations in a gene. See this site for more info. http://www.mayoclinic.com/health/phenylketonuria/ds00514.

Answered 1/6/2014

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