Classic PKU: A Case Study

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

Primary prevention -- using methods to prevent a disease before it begins -- requires an understanding of the disease’s cause. Most cases of PD are idiopathic; these result from an interaction between genetic factors and the environment (Heath, 2011). Five to ten percent of PD cases are due to inherited genetic mutations (Gillies et al., 2014; Heath, 2011). The largest risk factor for developing PD is increased age (Stacy et al., 2009). PD has a

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.

Polycystic Kidney Disease (PKD) is a fairly common genetic disorder of the kidneys. It affects approximately 1in 750 people. There are 2 types, the autosomal dominant (ADPKD) and the autosomal recessive (ARPKD). Autosomal dominant (ADPKD) is far more common of the two. The disease presents with lots of cysts on the kidneys and can not be cured. Medication can manage the symptoms. The symptoms include urinary tract infections, high blood pressure and even renal failure as it progresses. Serial ultrasound scans are usually performed to monitor the cysts and to screen family members.

Brian will continue to be counseled when he becomes angry or frustrated. Staff will continue to encourage Brian to talk to staff when frustrated instead of yelling out or cursing. It was important for Brian to continue to receive support on managing his feelings and preventing trespassing. Staff will continue to monitor and make sure his roommates' door is locked/closed to prevent trespassing. Brian will be supported with returning items if possessions are

He commented that while Dennis Froemke was employed that he was an “out of the box” thinker, but this often clashed with policy. Jeff, as state specialist is responsible for quality and training often disagreed with Dennis, but never observed any unprofessional behavior by Jeff.

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

Sally vacillates between LMU and NYU, while her twin sister shows great pertinacity toward Yale: forced to choose a college, Sally chose neither LMU or NYU due to her indecisiveness.

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

Which are coma, feeding difficulties, lethargy, seizures, vomiting, and urine that smells like maple syrup. In the urine, there will be signs of ketones. Ketones are the substances your body breaks down for energy. So, if it’s in your urine that means that your body is not getting energy from it. There will also be an excess acid in the blood. There are few treatments to this disease. Treatments involve eating a protein free diet, fluids and sugars can also be given through an IV. You also might need dialysis through your belly and veins to clear out any abnormalities in your blood. With this disease, you will need to constantly be on a very special diet. For infants, they need to be fed formula with low levels of leucine, isoleucine, and valine. While adults should avoid foods with leucine, isoleucine, and valine. The reason why dieting does help lessen the symptoms is that if you do not eat food with the affected amino acids then your body would not have the buildup of BCAAs and other substances which will cause health problems. If you do not follow the diet and take precautions it can cause neurological damage. Even if you diet like you are supposed to you are still susceptible to get the symptoms because high amount of stress and certain illnesses can cause high amount of amino acids in your body which your body will not be able to break down. This can cause

The name Phut means “bow” and his descendants were known to be mighty Warriors who served in various armies throughout the ancient world, and they were known professional and famous bowmen or archers. The offsprings of Phut are blood related and allies with the Ethiopians, the Egyptian-Ludim and the ancient Persians that were dark skinned individuals before the invasion of Arabs (Isaiah 66:19; Ezekiel 27:10; 30:5; 38:5; Nahum 3:9; Jeremiah 46:9; 2 chronicles 16:8; Daniel 11:43; Genesis 10:13). The offsprings of Phut had produced great kings, kingdoms and people. To name but a few most of these great Empires were the Zulu Empire, the Mandingo or Mande Empire, the Songhai Empire, Benin Empire and the Ghana-Empire which

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

The diagnosis of the disease, its cause or causes, stage, treatment and prognosis will be sought from the pediatrician. He establishes and explains the connection between the disease and the patient's family history. He prescribes appropriate medicines and medications to alleviate the patient's symptoms. The moral principles surrounding the couple's decision concerning the disease are contributed by the ethicist. He warns against the double-effect situation in this disease condition. He emphasizes that birth defects