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Genetic Diseases - Phenylketonuria
Classical PKU (Phenyklketonuria) is an autonomic recessive disorder. It is caused by a shortage in the enzyme "Phenylalanine Hydroxylase". It is a genetic disorder which prevents the normal use of protein food, and is also present at birth as a single disorder, mainly caused by parents.
Each parent of a child with PKU carries one defective gene for the disorder and one normal gene. When each parent produces sperm or eggs, only one of their two PAH (Phenylalanine Hydroxylase) genes goes into each cell. Half of these cells will contain mutated PAH. When the sperm and egg unite which both ha…
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