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Word Count: 368
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 have a PAH gene they produce a child with two mutated genes Not every child of the couple has to be left the disease Other children of the couple with one defective gene and one normal gene have a chance to be unaffected but live as a carrier The chances of this are twenty five percent There is also a one in four chance that both will pass on the normal gene and the baby will neither have the disease nor be a carrier These chances are the same in each pregnancy Boys and girls have the same chance of risk of inheriting this disorder Without a good PAH enzyme the person can gain high phenylalanine in the brain In PKU one of the enzymes are unable to convert PAH into Tyrosine another amino acid The lack of tyrosine results to Phenylalanine poison which causes retardation and epilepsy If the disease is not looked at and treated on time it will cause brain damage Children that arent treated become obvious in the first month Phenlyketonuria is the result of a variety in the shortages to other enzymes that are closely related to phenylalanine hydroxlase PKU appears in about 1 in 10000 births in Caucasians and East Asians The actions can be found to a small mutation in a single gene on chromosome 12
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