PKU: A Genetic Analysis

a doctor around the hospital will order a special blood test called a karyotype. This test counts the number of chromosomes, this test can also identify any that are abnormally shaped or have some missing pieces.

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

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 my previous experiences and conversations with various individuals, the overall interpretation or misconception of bipolar disease is that the person is “”crazy. What do people really consider or mean by the term crazy? As displayed by Team B’s behavior presentation, Bipolar disorder

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.

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

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

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,

ADPKD is diagnosed using imaging and genetic tests. In image testing, they can use an ultrasound, CT scan, and a MRI. The purpose is to try to see if there are any cysts in the kidney and to see if the kidney had grown to an abnormal size. If they see any of these things, they can confidently diagnose you with PKD.

Approximately 88,000 people die annually due to alcohol abuse. There is currently no medication intended to suppress the desire for alcohol; however, it may become a reality in the very near future. In the last year scientists have discovered that the Beta-klotho gene, originally thought to only regulate the progression of the FGFR4 protein in hepatocytes, may have multiple uses. Although it’s not extremely common in people, the gene may have the ability to be used in a drug to help repress the urge to drink alcohol. Scientists speculate the gene may also be the key to regulating obesity and heart disease.In other words, the Beta-koltho gene could potentially solve a few of society’s biggest

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.

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

Potassium is crucial to heart function, important for normal digestive and muscular function. It is the primary positive ion (cation) found inside body cells that it is essential for normal cell function. The proper function of the body requires 8% electrolytes in the bones,90% in skin intracellular fluid and 2% in extracellular fluid. Buttarro, et. al., (2017) mentioned that the human body average potassium is about 50 mEq/kg and normal blood potassium level is 3.5 - 5.0 milliEquivalents/liter (mEq/L). The decrease in potassium level is known as Hypokalemia; it profoundly affects the nervous system and heart, and when extreme may lead to sever complication or death (Buttarro et. al., 2017). Hypokalemia is a possible life-threatening imbalance that in some cases are acquired through inducing drugs (iatrogenic), genetic, endocrine, vascular and renal disorders (Butarro et. al.,