Phenylketonuria (PAA)

According to research, PKU is “an autosomal recessive genetic disorder characterized by mental retardation due to a deficiency in phenylalanine hydroxylase, an enzyme necessary to metabolize the essential amino acid phenylalanine to tyrosine. Without phenylalanine hydroxylase, phenylalanine is converted to neurotoxic phenyl pyruvic acid” (Gonzalez, 2009). For those who have PKU, the phenyl pyruvic acid would become quite toxic and lead to damage within the brain causing mental retardation. PKU was first discovered in 1938 by a man named Asbjorn Fölling, and throughout the early 1960s phenyl pyruvic acid was found in urine using a reaction with ferric chloride. However, it was in 1958, that Dr. Guthrie transferred to the Buffalo Children’s Hospital and was able to develop a new approach to measure and monitor

The majority of people diagnosed with PKU have survived because it is not a life threatening condition and if its not treated it only leads to mental retardation at its worst.

Phenylketonuria, or PKU, is an autosomal recessive, heritable disease that decreases levels of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine, resulting in an unhealthy buildup that can lead to brain damage, seizures, and intellectual disability. While not curable, PKU, if detected early on, can be treated to allow sufferers to lead full and healthy lives. The symptoms of PKU appear almost immediately after birth, requiring parents and hospitals to make the necessary preparations, including feeding infants with special formula. Lack of such care can result in

Carol’s line of questioning indicates that she is willing to learn and ready for the nurse to further educate her concerning PKU screening. Carol should be made aware that infants born with PKU are unable to metabolize the amino acid phenylalanine, “...a protein found in milk, dairy products,

In the United States, Phenylketonuria (PKU) affects about 1 in 10,000 to 15,000 newborn babies, making it a very uncommon genetic disorder (U.S National Library of Medicine, 2016). Phenylketonuria stems from an abundant buildup of an essential amino acid called phenylalanine that can become very dangerous when it reaches excessive levels (U.S.National Library of Medicine, 2016). The excessive buildup of phenylalanine is caused by an alteration in the gene which codes for the enzyme known as phenylalanine hydroxylase (PAH), which functions in breaking down the aforementioned essential amino acid phenylalanine (U.S National Library of Medicine, 2016). This genetic mutation is caused by an autosomal, recessive genetic mutation in chromosome 12 (Genetic Science Learning Center, 2016).

Another mutated gene present in ADEOA patients is the PSEN1 gene (part of the y-secretase complex), which is responsible for the production of presenelin 1, which is meant to cut other proteins into peptides. The y-secretase complex also relates to the amyloid precursor protein by cutting it into smaller peptides thus aiding in the production of beta amyloid, and eventually the creation of amyloid plaques. Mutations in the PSEN1 gene “the most common cause of early-onset Alzheimer disease, accounting for up to 70 percent of cases” (Genetic Home Reference). Another mutated gene is the PSEN2 gene, similar to the PSEN1 gene. “One mutation replaces the amino acid asparagine with the amino acid isoleucine at position 141 (written as Asn141Ile or N141I). The other mutation changes the amino acid methionine to the amino acid valine at position 239 (written as Met239Val or M239V).” (Genetic Home Reference). These mutations appear to affect the production of amyloid precursor proteins and aids in the

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).

Metabolism is a process in which chemicals and enzymes break down food in the digestive system to make energy. The food is converted into simple sugars, energy and amino acids with the help of the mitochondria. A body can use this energy right away or it can store the energy in tissues such as liver, muscles, and body fats. A metabolic disorder happens when something goes wrong with the metabolic process because of abnormal chemical reactions. The metabolic disorder causes some substances to be produced either too much or too little, resulting in unhealthy digestive conditions. Metabolic disorders can affect the breakdown of carbohydrates, lipids, or amino acids. Metabolic disorders can also happen if an enzyme or vitamin required to carry out a chemical reaction goes missing. One of the rarest, inherited metabolic disorders is Alkaptonuria. Alkaptonuria occurs when there is a build up of homogentisic acid (HGA) that causes the urine to turn black when exposed to air. The buildup of HGA gets deposited throughout the body and usually attaches to connective tissues and cartilages

“Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen, “ according to U.S. National Library of Medicine. PKU is a rare disorder, that’s detected after birth from newborn screening, and treatment starts promptly, but if not treated promptly, it can lead to severe symptoms. It’s treatable through a diet, symptoms vary from mild to severe like: intellectual disabilities to brain damage. PKU is a treatable disease that involves a diet with low phenylalanine. Its an inherited disease that increases the levels of phenylalanine in the blood. There is a long-term outlook for patients with PKU when it's excellent. Many organizations

This gene is called phenylalanine hydroxylase which helps the changing of phenylalanine into tyrosine in the liver. Here are the basic to understanding the concepts of metabolism, which is a processing compounds from our diet are changed chemically and used by our body to carry out the basic functions of life (Genetics and Louisiana families). With this screening that has been in place since 1960’s it has help to reduce the many causes of mental retardation, the reduction of mortality and many other serious disabilities. Each state has its regulation on Phenylketonuria (PKU) for newborn screening. The screening for this test is as easy as a small prick on the bottom of the baby’s foot and running blood sample test dried on filter-paper called The Guthrie test, also known as the Guthrie bacterial inhibition assay (Bickel et al., 1954). A small disc from the dried blood sample is pre punched in the chromatographic paper, and is placed in a solvent overnight. It is stained with isatin ninhydrin that detect this amino acid (Scriver et al., 1964). There are two advances in testing for genetic disorder, modification of tandem mass spectrometry and DNA extractions and also the dried blood spot. This makes testing on new born almost unlimited (Wilcken, Bridget Feb2008). PKU in not an uncommon disorder like most people may think. It occurs in about 1/10,000 to 1 in 15,000 newborn births (Genetics and Louisiana families). This test is taken between

Phenylketonuria is a disease that takes place in the blood where it blocks proteins. 1 in 15,000 babies or people get this rare disease. Some of the symptoms are skin rashes, seizures , and taking longer to crawl or walk. Phenylketonuria Is hard on the body to work on walking and crawling, When the body needs to walk it takes longer to do those things for the baby to develop.

Screening for PKU is now done in every state for all newborn babies. The test, called the heel stick test, is done at about three days old, to get early detection. Early detection is the key when treating PKU. If at an early age the baby’s diet is changed to avoid phenylalanine, a baby who was once destined to become severely mental retarded, now can live their lives fully without any symptoms of the disease. A baby who has PKU must immediately be kept away from foods containing protein, because protein contains high levels of

Fetal rat cerebral cortical neurons were treated with E (4 mg/ml) for 24 h and pregnant dams were treated with the “Binge” model as detailed above. Both of these regimens elevate Nrf2 expression as well as induce enhanced apoptotic death of neurons [5, 7]. To gain a better understanding of the E-induced GSH loss, we first assessed the levels of cysteine, which is one of the key substrates involved in de novo synthesis of GSH. Illustrated in figure 3, both in vivo maternal exposures and the in vitro PCNs treatment with E reduced Cys with a concomitant decrease in the GSH content. Cys was decreased in PCNs and fetal

It is required for normal development of life. Huge amounts of this amino acid are harmful to those who were born with phenylketonuria (PKU). Hypothetical changes in neurotransmitter levels in the blood and brain could cause neurological symptoms. However, toxicity studies suggest that aspartame cannot unsympathetically affect neuronal function due to some biochemical effects of high doses of aspartame consumption. Like methanol, the regular diet will lead to taking in of significantly higher amounts of phenylalanine than the amounts produced from aspartame

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