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 …

…to phenylalanine hydroxlase. PKU appears in about 1 in 10,000 births in Caucasians and East Asians. The actions can be found to a small mutation in a single gene on chromosome 12. An early discovery of PKU is very important because signs aren't obvious in a newborn baby. Symptoms of PKU usually develop within a few months after birth, when the phenylalanine has completed up in a babies system from taking the protein in formula or breast milk.