PKU Screening Analysis

Summarise the factors which may influence the health and development of babies in the first year of their lives.

“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

PKU stands for phenylketonuria and is an amino acid disorder. PKU is defined as an inborn error of metabolism. Specifically, it characterized by the bodies inability to covert phenylalanine to tyrosine. Moreover, PKU occurs due to a phenylalanine hydroxylase deficiency. An infant develops PKU by inheriting it from their parents. Also, it is referred to as an autosomal recessive trait. Moreover, the infants are missing an phenylalanine hydroxylase enzyme. The method that is used to complete the screening is obtaining a blood sample, and then measuring the amount of Phe and Tyr. Also, genetic testing can be done by obtaining a blood sample. The complications that may arise in infants diagnosed with PKU is that the levels of phenylalanine and

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.

Signs and symptoms of Phenylketonuria vary depending upon the age of the person as well as progression of the disorder. Newborn babies usually show no signs or symptoms of phenylketonuria until they are about a few months old (Mitchell, 2013). The diagnostic test for phenylketonuria in newborns is a heel-prick test to obtain a sample of blood. If the test results indicate high levels of phenylalanine, further blood or urine tests may be requested to verify the diagnosis. Almost all cases of phenylketonuria are identified during the newborn screening tests (Mitchell, 2013). Untreated babies, children, and adults may show signs and symptoms of phenylketonuria.

Phenylketonuria (PKU) occurs in 1 in 15,000 newborn babies just in the United States. All around the world, PKU affects about 1 in 20,000 newborns. PKU does not affect a person’s life expectancy no matter if they receive treatment or not. It is screened for in all newborns in all 50 states. (Boston Children’s Hospital, 2005-2017)

A child’s physical development is highly important during their first two years. During the biosocial stage infants develop gross

|Infancy |Body weight doubles by the fourth month after birth and| |Crying and contentment |

The signs of PKU can range from mild to severe, but the most common is Intellectual disability. Other symptoms include delayed development, neurological problems such as seizures, as well as poor bone strength, eczema, and a musty odor in the child’s breath, skin, and urine, as a result of over-production of phenylalanine. In addition, children with PKU frequently have fair skin, hair and eyes, due to the errors that occur in the Phenylalanine metabolism pathway.

The benefit of PKU testing outweighs the potential risk. PKU can have devastating effects if not caught early. It is vital that treatment is initiated within the first 72 hours of life. PKU can be effectively managed if caught in time. The implementation of PKU testing has prevented millions of infants from experiencing the effects of intellectual disability and behavior abnormalities. Individuals with PKU can be successfully managed with monitoring of PKU levels and dietary modifications. The testing is cost effective and has high sensitivity and specificity. The estimated cost associated with the treatment of an individual with mental and intellectual disabilities can be millions of dollars. The population screening of metabolic disorders

In the 20th century, genetic testing was initiated to determine whether an individual had a genetic disorder or not. Newborns were tested for a condition known Phenylketonuria (PKU). PKU is a condition where by a buildup of an amino acid known as phenylalanine in a baby’s body leads to intellectual impairment and possible brain damage. This amino acid is built up when a baby lacks an enzyme that converts phenylalanine into another amino acid called tyrosine. The screening tool used is known as the Guthrie test whereby blood is collected from the heel of a new born and tested for the presence of PKU. If the PKU content is above 1-2mg/dl, then the baby has PKU. Early detection of this condition has helped to preserve the brain function of the child. Also, the child is

What is PKU? Well PKU stands for "phenylketonuria". It's a type of amino acid disorder. People with this disorder have trouble breaking down an amino acid named phenylalanine from the food they consume. This type of disorder is a group of rare inherited conditions. They are caused by enzymes that do not function correctly. PKU is always tested right after birth in the United States. It is important to find this disease early as it can cause severe brain damage. It is usually done in the first few days after birth and as early as 24 hours after birth. It may be repeated within the first week or two after birth. If tested positive, the damage caused by PKU may begin weeks after the baby has consumed formula or breast milk. Babies with this disease

The development of a child in the first year of life is extremely intense; in just 52 weeks’ an infant goes through major physical, cognitive and social and emotional developments.

“There is no greater disability in society than the inability to see a person as more.” Robert M. Hensel says that, to look at a person with a disability and think nothing more of them is a disability for us. Birth defects are abnormalities mostly found in infants. There are many issues that come along with having a birth defect but some can be prevented. Analyzing all that is known in accordance to birth defects can help us look for more solutions in minimizing birth defect rates. For this reason education for pregnant women regarding birth defects needs to be more prevalent in the medical community.

Child is a gift from God. Every parent hopes for a healthy child. However, abnormalities in the fetus growth becoming common nowadays. These may be due to physical, radiation and chemical factors. These factors will cause deformities such as genetic mutation which causes mental retardation, abnormal body buildup and other conditions which bring a lot of troubles in the future to the child themselves and their parents. Modern technologies and innovations in the medical field had developed a method to detect the abnormality before delivery and prevent this future tragedy to happen. This method is known as prenatal screening. There are several advantages and disadvantages of prenatal screening.