Phenylketonuria Case Study

Parents who suspect they might be at risk are strongly encouraged to be tested before pregnancy. Pregnant mothers can have their unborn babies tested for Hex A deficit that causes Tay Sachs. If these tests do not detect the Hex A gene, the baby has the Tay Sachs mutation. If the tests do detect the Hex A gene, then the baby is perfectly healthy. Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling or CVS. In this procedure, a small sample of the placenta is drawn into a needle or small tube for analysis. Between 15-18 weeks of a pregnancy, an expecting mother could have an amniocentesis to test for the Hex A mutation. This test involves a needle that is inserted into the mother’s belly to draw a sample of amniotic fluid that surrounds the fetus. Children are usually tested for Tay Sachs after having hearing, sight, and movement problems. The disease can be identified by a doctor through blood tests and screening.

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

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.

Diagnosing the disease can be relatively simple, but this depends on accurate patient history and ones ability to recognize varied clinical signs and then perform diagnostic procedures. These diagnostic procedures may include antigen testing, x-rays, ultrasonography, angiography, a complete blood count, the Knott’s or Filter test, and in the worst case necropsy.

Attending a mass-screening event at school or going to an urgent care center may seem like good ways to check this item off your to-do list, but there are usually costs involved. Even more important: School checkups and sports physicals should be done by your child’s primary pediatrician. (In fact, CHKD urgent care centers do not offer well visits sports physicals.)

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.

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

Low phenylalanine containing diet is the first treatment of PKU, and this is applied for all of PKU patients. It has been demonstrated that low phenylalanine concentration in daily meals can effectively prevent mental retardation in PKU patients, especially in newborns (Knox, 1960). The major point of this treatment is to offer PKU patients with very low phenylalanine diets, and all of protein-rich and aspartame containing foods and drinks should be avoided. Aspartame is an artificial sweetener that can be converted into phenylalanine following ingestion, so it must be avoided from the diet of PKU patients (Williams, Mamotte & Burnett, 2008). Since PKU develops very early after birth, this treatment is applied immediately after conformation of the disease in an infant. For older kids, the amount of daily ingested protein is calculated each day regarding how severe PKU of the patient. Although this method can

The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.

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,

G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome. In people with G6PD

Your child's health care provider can diagnose pica from your child's symptoms and medical history. If your child has pica or is suspected of having pica, certain tests may be done, including:

Diabetic Ketoacidosis (DKA) is a disease state, most often seen in individuals with Type I Diabetes. While it most often results from uncontrolled insulin levels, young children can often present in diabetic ketoacidosis as the initial presentation of undiagnosed type I Diabetes. The major symptoms of Type I Diabetes, polydipsia, polyphagia, and polyuria, are often subtle and can be normal in growing children (Urden, Stacy & Lough, 2014; Wilson, 2012). Unless alert to the symptoms of Diabetes they can often be overlooked until severe enough to warrant immediate medical attention.

Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental

The human body contains blood and fluid compounds and elements like chloride, phosphate, potassium, calcium, sodium, and magnesium known as electrolytes that occur naturally to control important physiologic functions. When the body levels of electrolytes are low (hypo) or high (hyper) it results in electrolyte disorder. Depending on the affected electrolyte(s), when body electrolytes are hyper (high) or hypo(low) it leads to electrolyte disorder, which in turn disrupts blood ionized salts balance ( Buttaro, et al., 2017). For instance, disruption of chloride leads to either hyperchloremia or hypochloremia, calcium (hypercalcemia or hypocalcemia ), Potassium (hyperkalemia or hypokalemia), Magnesium disruption