PHENYLKETONURIA. Have you ever heard of the genetic disorder called phenylketonuria? Phenylketonuria (PKU) if not treated, makes your pee stink (mayoclinc.org). A scientist found that there was a bunch of simpletons caused by parents’ gens. He is a respected Indian scientist in Norway (pkunews.org). PKU is found and diagnosed by a doctor getting blood from the baby and put I'm ting it threw a test. Origin of Discovery working from his own improvised laboratory in the attic of the medical ward. He checked the urine samples first visually and then chemically for acidity, pus, protein, and glucose. Protein or glucose in the urine would have suggested kidney malfunction, especially diabetes. But all the tests were negative. Except …show more content…
But unlike the others Følling tried another test: he added some drops of acidified ferric chloride solution to each pee sample. This commonly used to detect diacetic acid (now typically called acetoacetic acid), which would have show complications of diabetes or possibly hungry. If diacetic acid is present in the urine, the sample turns a purple or burgundy color. But both children’s samples turned a deep green color, a reaction Følling had never seen before. A search of the literature told him that no one had seen this reaction before. Borgny children were excreting an unknown substance into their urine. Symptoms The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without surgery or some type of treatment, these children get permanent intellectual disability. Seizures, delayed actions, acting problems, and psychiatric disorders are also common. Untreated people have a musty or mouse-like smell as a side effect of excess phenylalanine in the body. kids with classic PKU usually have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as
Signs and Symptoms of PKU. Since phenylalanine plays a role in the body’s production of melanin, infants with this condition usually have lighter hair, skin, and eyes than other infants without the disease. Symptoms include Delayed mental and social skills, hyperactivity, seizures, microcephalus, jerking movements of the arms or legs, intellectual disability, tremors, and unusual positioning of hands.
The primary goal of this laboratory is to correctly identify an unknown substance. To achieve this task, one may use various tests that reveal both chemical and physical properties of a substance. By comparing the results of a known substance and the unknown substance, one may eliminate alternative possibilities and more accurately predict the undisclosed compound. Furthermore, by performing these tests, data can be collected and verified regarding chemical and physical properties of the unknown. Understanding the chemical properties of a known substance aids one’s understanding of the unknown based on comparative analysis of the results of the tests.
Third, we did a hair examination and compared strands of hair. Fourth, we also tested the pills which we found by seeing if the pill sample would react to a substance. Fifth, we also tested vomit macromolecules with iodine, solution and hot water to see if it would react to a specific substance. Lastly, we also performed a test to determine Anna’s body temperature at the time of the scene as well as a blood splatter test to determine if she fell or not.
Dr. Morris Greenberg was one of the two investigators and was the Health Department’s chief epidemiologist. He was not convinced that the men suffered from food poisoning, because the symptoms appeared too quickly. He postulated that the men had consumed some type of drug. To prove his claim, he wanted blood samples from the men and wanted the samples to be tested for methemoglobin, a compound formed
The men involved in the experiment were told they were being treated for “bad blood”, a term used to describe syphilis, anemia and fatigue. They were under the impression that the doctors conducting the
By testing a child's blood and urine, we can assess his or her neurotransmitter and nutritional deficiencies as well as the presence of toxins and thereby determine the appropriate therapy for that individual.
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
There are also a few tests that will show whether or not the kidneys are filtering the body’s fluids as they should. A simple urinalysis can be done to detect protein or blood in the urine. This will alert the medical professionals to a possible problem with the proper functioning of the kidneys. There are also Blood Urea Nitrogen (BUN), creatinine, and glomerular filtration rate (GFR) tests that will measure the
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)
Phenylketonuria is an autosomal recessive error that leads to a mutation of the enzyme phenylalanine hydroxylase (PAH). This disease, more commonly known as PKU, is characterized by a deficiency in the enzyme needed to process the amino acid called phenylalanine (Mayo Clinic Staff, 2014). The mutated PAH is crucial in the degradation of amino acids. The amino acids we intake are from food, which makes PKU a metabolic disorder (Okan, 2011). The body’s inability to break down phenylalanine leads to a build up of it in the body. The excess of this amino acid negatively impacts the cognitive function of the individual. Phenylketonuria is the most common inborn error of amino acid metabolism (Arnold, 2014).
The first sign of AKU in an infant is the dark staining of their diapers then as the patient ages homogentisic acid builds up in the connective tissues. A lot of individuals do not excrete black urine because their urine is acidic. Throughout the early years, pigment is still deposited throughout the tissues causing black earwax and dark pigmentation under the arms for kids under the age of ten. Additionally, the homogentisic acid builds up in the cartilage, which is called Ochronosis that can cause pigmentation to be visible in the areas of the sweat glands, eyelids, an forehead, and fingernails. Furthermore, AKU can lead to severe arthritis in the hips knees, shoulder, and the spine. Due to the deposition of pigments, it can lead the patient to risk of heart attacks and kidney
Phenylketonuria is an uncommon metabolic genetic disorder that is caused by a mutation in the phenylalanine hydroxylase (PAH) gene. The PAH gene is located on the long arm of chromosome 12, specifically at location 23.3, and is responsible for the conversion of the amino acid phenylalanine to tyrosine. The mutated PAH gene associated with phenylketonuria is caused by an autosomal recessive disorder. Autosomal recessive disorders result when two copies of an atypical recessive gene are passed on to an offspring, meaning both the mother and father carry the abnormal PAH (p) gene. Although the parents themselves may not have the disease, the offspring that results from two recessive carriers is positive for PKU and has the genotype pp. An
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
In a patient who has glomerulonephritis, a value of 30(+) for proteins appears and large amounts of blood can be found. There is also traces of ketones and a smaller amount of bilirubin. The values for leukocytes, nitrite, urobilinogen, pH, specific gravity and glucose remain the same as the healthy patients. In continuance, an individual with type 2 diabetes mellitus will show tests outcomes that match the outcomes of a healthy patient, but they will have traces of ketones in their urine as well as no bilirubin and large amounts of glucose [250(+)]. A patient who is dehydrated also displays similar results to a healthy patient, with the exception of the pH being much more basic (8.5), proteins being traced in their urine, no bilirubin being present and a decrease in specific gravity (1.005).