Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by an insufficient amount of the enzyme phenylalanine hydroxylase. Furthermore, a lack of this enzyme can produce mental retardation, organ impairment, abnormal posture, and if a woman is pregnant, the pregnancy is considered high risk.
PKU's gene name is Phenylanlanine hydroxylase (PAH), and the Gene ID number is 5053.
Phenylalanine is an essential amino acid, and the body must get them from food to build the proteins that make up the tissues and keep them working. Thus, phenylalanine is required for normal development.
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Here is a link to more information about the genetics of Phenylketonuria that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Phenylketonuria/300. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
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