Phenylketonuria In Babies Essay

LABS to monitor. PKU is easily diagnosed with a simple blood test. All newborns, by law, must be screened for PKU. If the test is positive, further blood and urine testing is required to confirm the diagnosis.

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 diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

These people with are born with a mutated copy of the PKD1 (85% of cases) or PKD2 (15% of cases) gene in each cell and this mutated gene is inherited from one of their affected parents in about 90% of the time. The other 10 percent of cases result from new mutations in people with no history of the disorder in their family. This is known as acquired polycystic kidney disease. The PKD1 gene is located on chromosome 16 and PKD2 gene is located on chromosome 4. Not only are there mutations in the DNA of these genes but there may also be large deletions that remove sometimes up to 10 genes.

With this in mind, many people who suffer with PKU use many low protein, dairy free, fruits and vegetables products to maintain their health and even stated that “PKU isn't just a diet thing. It's a brain thing.” Since all 50 states and territories of the United States require the screening of PKU, it is normally tested right after the baby is born. By taking a few drops of blood from the heel of the baby, the sample will be sent to a laboratory to test the amount of phenylalanine in the sample. Since PKU is also known as a genetic disorder, many health care providers also suggested the idea of genetic testing so it can into detail about the mutations in the genes that will cause

Clinical examination and urine test (excess muccopolysaccharides are excreted in the urine) are the first steps in the diagnosis of an MPS disease. Enzymes assays ( testing a variety of cells or blood in culture for enzymes deficiency ) are also used to provide definitive diagnosis of one of the MPS. Prenatal diagnosis using amniocentesis and choroionic villus sampling can verify if the fetus is affected with the disorder. Genetic counseling can help parents who have a family history of the MPS to determined if they are carrying the mutated gene that causes the disorder.

Soon after birth, all babies born in the United States will check for a specific disease. This is called newborn screening. All infants look healthy because they can see from just a baby emergency and screening. Finding these conditions soon after birth can prevent severe problems such as brain damage, organ damage and even death. For example, if the baby's body is capable of handling phenylalanine, make a test (PKU) for phenylketonuria. Phenylalanine is a result of brain damage found in some of the many protein-rich foods and sweeteners can be built on the blood and tissues of a baby with PKU. PKU and baby are put in a special case to avoid the diet initially. Babies are tested for hypothyroidism means that the body does not make enough thyroid hormone. Hypothyroidism baby can take hormonal drugs to prevent a slowdown in growth and brain damage that can occur if not treated hypothyroidism. Also, baby with sickle cell disease are at

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

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,

Newborn screenings are done to identify infants with PKU. Each state in the United States differs with their screening process, but most of the screenings consists of blood tests. A few drops of blood are collected from the baby’s heel 24 hours after the baby is born. The blood sample is sent to the laboratory to test for metabolic disorders such as PKU. If there is an indication of PKU further tests are conducted like urine tests and more blood tests.

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

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

MSUD is a disorder of BCAAs metabolism with a frequency of 1/185,000 live newborns all over the world, while incidence is quite high in Eastern part Pennsylvania as high as 1 in 200(1). It is an autosomal recessive hereditary metabolic disorder is due to defective oxidative decarboxylation of the branched-chain alphaketoacids (BCKAs) derived from transamination of the the BCAAs, valine, leucine and isoleucine. The oxidative decarboxylation of this BCKAs is catalyzed by the branched-chain alphaketoacid dehydrogenase (BCKDH) complex(2). These mutations sub classifies MSUD in MSUD type 1 or MSUD type 2.Traditionally, the metabolic phenotype of MSUD is described classic or intermediate variety on related residual BCKAD enzyme

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