Phenylketonuria, or PKU, is a genetic disorder in which a person’s body is unable to break down an important amino acid found in protein called phenylalanine. This disease can be found in 1 of 10,000 to 15,000 babies across the United States. This disease is mostly found in people of European or Native American heritage. However, PKU can be found the same amount in both women and in men. Phenylketonuria is carried on a recessive allele. As a result, both parents must pass down the same recessive allele for the disease in order for the baby to carry it. However, both parents do not need to have the disease to pass it on. PKU is a recessive allele that in most parents is overpowered by the dominant allele preventing PKU. Phenylketonuria is a genetic disorder in which a person’s body does not contain the enzyme that is necessary to break down an important amino acid found in protein called phenylalanine. As a result, some of the symptoms of this disease include the following: fair skin and hair due to lack of melanin synthases, dry skin patches or Eczema, light sensitivity, and hair loss. Some of the more serious symptoms of PKU are intellectual disabilities, 50% increase in epilepsy, and eye abnormalities. PKU is a disease that if treated early on, the diseases symptoms can be less serious. However if …show more content…
The first treatment is dietary treatment. Many patients use dietary restrictions by staying away from foods with high Phenylalanine content. Many of the foods that can be eaten are fruits, non-starchy vegetables, and specially order low protein items. The second treatment, are pills with neutral amino acids which help lower plasma levels and stop the phenylalanine from entering the brain. However, this treatment works better on patients with some of the enzyme in their bodies. Despite these finding scientists continue to try to find cures for this
Henoch-Schonlein Purpura Henoch-Schonlein purpura is inflammation of the blood vessels. This causes a rash of red or purple spots on the skin. This condition may also cause kidney problems and pain in the knee joints, ankle joints, or abdomen. Generally, this condition goes away on its own, although symptoms may return (recur) over time. CAUSES
3. Scientists believed the newly infected individuals produced quality specimen and it was impossible to detect the microbe once the infected individual started to recover. Scientists wanted to compare patients blood antibody test from early in their illness to the end of their illness in which they found that
However, the success of researchers has been limited as the
Alkaptonuria Ashley Thompson Grand Canyon University Alkaptonuria Alkaptonuria (AKU), which is commonly known as the black urine disease, is a very rare autosomal recessive disorder that occurs due to the mutation in the Homogentisate 1,2 Dioxygenase Gene (HGD). The HGD gene is what provides interactions for the making of the enzyme called homogentisic acid oxidase (HGAO). HGAO is the enzyme that helps by breaking down the amino acids tyrosine and phenylalanine. Tyrosine is known as a non-essential amino acid with a polar side group and it has a special role to the phenol functionality. Tyrosine appears in the proteins that are a part of signal transduction processes.
Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan.
Because these cannot be proved they have put natural causes as a possibility much like Malaria and Typhoid Fever (Alexander
Paget Disease of Bone Paget disease is a condition that makes the bones grow faster than normal. This leads to bones that are larger and weaker than normal. Healthy bones rebuild themselves by destroying old bone and replacing it with new bone tissue. This process usually slows down as a person gets older.
About 1/3 of students diagnosed with familial dysautonomia have learning disabilities, including short attention spans. As the children grow older, their symptoms worsen. They have more difficulty walking. They may have lung damage from repeated lung infections. Their vision becomes worse, as their optic nerves
Feline panleukopenia is a potentially lethal disease that infects hundreds of cats every year. Spotting this disease, understanding how it can be treated, and following a strict vaccination schedule for kittens can help you fight off this condition. Symptoms Feline panleukopenia attacks the white blood cells of your cat and causes problematic symptoms as early as two days after initial infection. Warning signs and symptoms of feline panleukopenia include: Repeated vomiting of a yellow bile Plaintive and painful cries Apathy and lack of playfulness Loss of appetite Bloody bowel movements Diarrhea Fever as high as 105 degrees Fahrenheit In kittens, these symptoms are severe enough to cause a quick and painful death.
al, (2007). Many parents have no idea about the things, causing pain and many other issues that come with having this disease. The most commonly affected population
In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.
Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is.
These reasons are just of few of the reasons why doctors, scientists, and historians thought the disease was
Without research, people will continue suffering from epidemics and diseases that are difficult to treat. The importance of science is that it creates an opportunity for scientists to seek further knowledge that can help them understand how diseases work. For example, the cure for HIV/AIDS can only be found, if scientists continue conducting research on how the virus operates and how it can be treated. It is of great importance that research efforts are well-funded and that researchers receive the support they need to ensure that research efforts are successful. The information collected from proper research is helpful to all health professionals in the provision of targeted and well-informed treatment plans that meet the needs of the