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 …showed first 75 words of 366 total…

…showed last 75 words of 366 total…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.