Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKUis caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. Without … See more
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The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. PKU is a sex-linked disorder. At what age does this order first become evident?
Is PKU a recessive or dominant trait?Well, that means that people that have PKU have two recessive genes for the disorder. In scientific terms they are homozygous recessive for the PKU trait. The recessive gene which characterizes PKU is inherited from both parents.
What is the average life expectancy of someone with PKU?PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. How long is the average life span of a person with PKU? The average age at death was 55.8 years. Eleven subjects were still alive (seven females and four males). The oldest living male was 79 years of age.
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