Absolute Acid Disorder (PKU)

Define Phenylketonuria. This is a rare inherited condition where the infant is born without the capability to properly break down phenylalanine. Also known as PKU. This allows the amino acid (phenylalanine) to build up in the infant’s body. Which means that a diet high in protein can lead to multiple serious health problems because of the dangerous levels that can build up from the incapability of breaking down phenylalanine. For someone diagnosed with PKU, it is a lifelong lifestyle change to follow a diet that limits the intake of phenylalanine which found mostly in proteins.

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

Untreated PKU can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures. The defective gene does not produce the enzyme necessary to break down and rid the body of phenylalanine. The symptoms of phenylketonuria result from a buildup of (Global Genes, 2012) I eat differently. My friends understand PKU is very difficult, but-non PKU people think I am VERY different. I’ve had to adjust to other’s perceptions and learn to cope with what other people expect is the norm.”(Global Genes, 2012) this researcher would describe this disorder as A birth defect that causes an amino acid called phenylalanine to build up in the body. Phenylketonuria is an internal disorder. delayed development, failure to thrive, short stature, or slow growth

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,

Diagnostic exams for PKD are commonly kidney imaging studies, including ultrasounds, CT scans, and magnetic resonance imaging (NKUDIC). According to the NKUDIC, “diagnosis can also be made with a genetic test that detects mutations in the autosomal dominant genes.” Autosomal recessive PDK is diagnosed using ultrasound images of the fetus or newborn, revealing enlarged kidneys or kidneys with an abnormal appearance. It has also been found that higher serum uric acid levels are associated with Polycystic Kidney Disease, according to

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.

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)

New born screenings have been implemented since the 1960s. More 44 states advocate for 21 of 29 screenings and yearly newborns go through screenings for genetic defects. The intention of new born screenings is to identify genetic conditions before traits occur for early treatment. For instance, PKU screenings pinpoint infants therefore a calculation of diet is given to prevent mental retardation. Unfortunately, not all conditions are treated the same with the use of dietary measures, it even goes as far as medical procedures. Diagnosed defects include developmental delays, neurological defects and increase in morality. Even more some are left without treatment being of its rare condition and become therefore become a patient in waiting. In

There are many tests are available to diagnose SLE. The tests available are antinuclear antibody (ANA), complete blood count (CBC), chest x-ray, serum creatinine, and urinalysis [24]. CBC is used to check red blood cells, white blood cells and platelet level which are typically abnormal in patients with SLE [24]. Urinalysis checks for kidney function, measuring the levels of protein and check for any urinal tract infection [68]. A complete physical is also conducted and the heart is checked for abnormal sounds or friction rubbing [24]. To classify a person with SLE, physicians abide to the American College of Rheumatology (ACR) criteria list, in which 4 out of the 12 criteria must be present in a patient and this shows a specificity of 95%

The treatment for this patient is to replace the fluid which should stop the release of angiotensin and aldersterone. This should be accomplished with normal saline. If there is hypokalemia you would need to supplement with potassium. A proton pump inhibitor would also need to be used like prilosec to prevent further losses in hydrogen ions. If she was on any diuretics they need to be discontinued and if renal failure is

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 results of the experiment prove the hypothesis of the group. It was hypothesised that the less diluted the acid is, the faster the ant-acid will dissolve. The results show this, as the ant-acid in the 0.5M acid took 9:02 minutes to dissolve; the ant-acid in the 1.0M acid took 2:50 minutes to dissolve and the ant-acid in the 2.0M acid took 2:09 minutes to dissolve. The trend of this experiment is the downward slope of the time when the acid becomes stronger, however, it is not as mathematically correct as the group had expected. The group had hypothesised that the 1.0M acid would take half the amount of time that the 0.5M acid would take, and the 2.0M would take half the amount of time the 1.0M acid would take. This was not the case, as

Glutaric aciduria is an inherited autosomal recessive condition in which the body is incapable of completely processing proteins. This is due to mutations of the GCDH gene which is involved in the production of glutaryl-CoA dehydrogenase which in turn is involved in processing the building blocks of proteins; amino acids. The enzyme glutaryl-CoA dehydrogenase is responsible for processing the amino acids lysine, hydroxylysine, and tryptophan. With the body unable to process these amino acids, they build to toxic levels and attack the basal ganglia portion of the brain forming irreparable damage. The basal ganglia is responsible for regulating both voluntary and involuntary muscle movement, learning, cognition, and emotion. To the casual