Phenylketonuria Research Paper

In people with PKU Phenylalanine’s most apparent and benifical side affect is itrs function as a necessary building block for protein; It may also help create chemicals that work to regulate appetite and mood.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

The disease is inherited usually by 2 carries of the disease or a person with the disease or a person with the disease and a carrier of the disease. “BCKD, a protein complex is located on chromosome 19 where the genes get mutated MSUD are BCKDHA, BCKDHB,DBT and DLD. (wiki.ggc.usg.edu)

Phenylketonuria (PKU), is the most common inborn error of amino acid metabolism, results when a deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body’s ability to metabolize the essential amino acid phenylalanine. This leads to accumulation of phenylalanine in body fluids. Elevated of phenylalanine levels negatively impact cognitive function, and individuals with classic phenylketonuria almost always have intellectual disability unless levels are controlled through dietary or pharmacologic treatment (Georgianne L Arnold, 2014).

A Phenylketonuria (PKU) test is done on newborn babies to determine if they have the necessary enzyme needed to use Phenylalanine in their body. Phenylalanine is the amino acid needed for normal development and growth.

Replacement of sex hormones during puberty may result in development of adequate secondary sex characteristics e.g. breasts, pubic hair and a deeper voice.

Lesch-Nyhan syndrome is a rare condition that affects boys at a young age and approximately 1 in every 380,000 births. Boys with this disease get kidney stones, develop uncontrollable urges to hurt themselves and cannot control their muscles. Lesch-Nyhan syndrome was first discovered by Michael Lesch and William Nyhan in 1964 and shortly after, it was found that this disease was an X-linked genetic disorder which means that it is inherited from the mother. It wasn’t until 1985 that scientists discovered the gene that was responsible for this syndrome. The gene HPRT, hypoxanthine phosphoribosyltransferease, controls the production of certain chemicals in the body called purines; ATP is a purine. Males get this disease when there is a mutation

Currently every state test newborns for phenylketonuria, and congenital hypothyroidism (U.S. National Library of Medicine). Phenylketonuria, or PKU, is a very rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. Caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine, left undiagnosed and untreated, this disease leaves many complications for affected (Mayo Clinic). Due to prenatal testing, those affected by PKU are able to alter their diet early on so that the disease will not inhibit them. Congenital hypothyroidism is a type of inherited disease where the thyroid is unable to produce important hormones, when diagnosed early, doctors are able to give doses of those critical hormones and those affected individuals are able to function normally (Mayo

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome. One of the most common genetic disorders is polycystic kidney disease. Polycystic kidney disease (also termed PKD) causes many cysts to grow on the kidney. The cysts can be very damaging if they become too large in size. About 600,000 people have PKD in the United States. Found in all races equally in both men and women, PKD is the fourth leading cause in kidney failure.

Mutation PKD1 is located on chromosome 16 specifically 16p13.3 and mutation PKD2 is located on chromosome 4 in the vicinity of 4q21-23 (Grantham, 2008). In addition, the PKD1 is very large compared to PKD2, it encodes for a 14.1-kb mRNA transcript that is translated into a protein composed of 4302 amino acids (Igarashi, 2002), whereas PKD2 encodes a 5.3-kb mRNA transcript that is translated into a 968 amino acid protein (Igarashi, 2002). ADPKD follows a dominant inheritance. This means that if either the mother or father has ADPKD, the offspring will have a 50% chance of inheriting ADPKD (Grantham, 2008). If the gene for ADPKD is not passed on, the offspring will neither inherit the disease, nor be able to pass on the disease to future offspring (Grantham, 2008). Ways to develop ARPKD require each parent to be a carrier of at least one defective copy of the disease gene; in this case, there is a 25% chance of having the disease. If only one parent carries the defective gene, the offspring will not inherit the disease (Igarashi, 2002). In Mary’s case, the pedigree resembles an Autosomal Dominant PKD pattern, due to the high frequency of complications

Phenylketonuria is also know as PKU. It is a rare inherited disease where the progression of phenylalanine builds up inside the human body. Phenylalanine is a natural substance that is a building block of protein. People with PKU can not break up amino acid phenylalanine, which can lead to brain damage due to the phenylalanine building up into the blood and

Approximately 1 in 10,000 caucasian babies are born with PKU (Baulny, 2007). In order for a person to inherit phenylketonuria, the mother and father both must have and pass down the defective gene. The parents of someone afflicted by this disease may have the gene but not have PKU. This parent would

PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of the genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies.

For women with PKU, it's essential that they return to a strict diet if they're considering becoming pregnant, as high phenylalanine levels can harm an unborn child. They have to take particular care during pregnancy as high levels of phenylalanine can damage the unborn baby. Problems can be avoided if phenylalanine levels are strictly controlled during pregnancy and there's no reason why a woman with PKU shouldn't be able to have a normal and healthy baby. All women with PKU has been recommended to plan their pregnancies carefully. They should aim to monitor the blood twice a week and follow a strict diet before becoming pregnant. Pregnancy women will be asked to provide blood samples 3 times a week and will be in frequent contact with their

leading cause of this type of kyphosis in adolescent is being caused by the increased