Phenylketonuria Essay

In some cases there are very mild symptoms or no symptoms at all . Parents and children can get disease without realizing it before.

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.

In people with PKU Phenylalanine’s most apparent and benifical side affect is itrs function as a necessary building block for protein; It may also help create chemicals that work to regulate appetite and mood.

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.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating

public awareness because of its startling symptoms and the appearance of several affected children in

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

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,

In ARPKD, the chances of passing down the disorder is 25% if both parents are carriers for the disorder. If only one parent has the disorder it is impossible for the child to have it because it is recessive. However the child can be a carrier and pass the mutated gene down to the next generation. If you are both homozygous for the trait then the chances that you will pass on the trait is 100%. If you and your spouse both don’t have the trait at all then the chances of passing down the trait is 0%. (Used a Punnet Square)

There are signs and symptoms having to do with this disease. It is present when you are first born, if you are said to have it. However, when they are first born with it, they don’t start encountering problems until they are 6 months or around that age. All states in the United States and their territories, and other places are required to screen for the sickle cell disease on all newborns. Symptoms of this varies from child to child. Some may get symptoms earlier than the next. Early symptoms can be swelling of the hands and feet that is painful. That symptom is known as dactylitis. Another early symptom can be jaundice, which is a yellowish color of the skin. Being fatigue and irritated is another symptom detected early. However, even though there are early symptoms at 5 or 6 months after birth, the doctor can’t predict all the symptoms they will have, when they will start and how severe they will be. Some possible symptoms from the disease would be shortness of breath, being weak and looking pale. Another type of pain you could have is, pain in your bones. The pain can last between a few hours and a few weeks. Some teenagers and adults can have chronic pain that comes from joint damage, ulcers, and other things. The swelling and pain they feel in their feet and hands comes from the sickle shaped red blood cells that are blocking blood from flowing to their hands and feet. Also, abdominal pain is a symptom. Mainly

Lesch-Nyhan syndrome is a rare condition that affects boys at a young age and approximately 1 in every 380,000 births. Boys with this disease get kidney stones, develop uncontrollable urges to hurt themselves and cannot control their muscles. Lesch-Nyhan syndrome was first discovered by Michael Lesch and William Nyhan in 1964 and shortly after, it was found that this disease was an X-linked genetic disorder which means that it is inherited from the mother. It wasn’t until 1985 that scientists discovered the gene that was responsible for this syndrome. The gene HPRT, hypoxanthine phosphoribosyltransferease, controls the production of certain chemicals in the body called purines; ATP is a purine. Males get this disease when there is a mutation

These forms simply depend on what stage in life you develop the disease at. Perinatal form, when the child is born with it. Neonatal form, when the disease develops during the first month. Infantile form, the disease is developed when the child is between 3-6 months of age. Juvenile form, when the disease develops after the child is 1 year old. ADPKD can only be inherited but both parents must be carrying the gene for this disease to develop, this is how it gets its name Recessive PKD. If only one gene has this disease then it stay recessive as your body still has one ‘normal’ working gene, but if both genes have the recessive disease than it causes the body to have no working copies of that particular gene, therefore it shows and forms the

In general, it is reported that people treated for PKU displays good outcome. Patients that are treated people could display no noticeable signs of developmental, neurological and physical, problems. Many individuals diagnosed with PKU using the newborn screening and have been treated since birth and they were able to build a good family, high educational achievement, and successful

It was found in recents studies that KS is most commonly inherited maternally. Due to the regular levels of aneuploid sperm men produce, all men in the general public have a risk of producing an aneuploid child, therefore producing a child with KS. Knowing this, a man does not necessarily have to have KS to still produce a child with Klinefelter syndrome however it is more common for a child to inherit Klinefelter syndrome if his father also has KS.