Phenylketonuria Research Paper

Metabolic alkalosis is a condition in which the body fluids have excess base. The kidneys and lungs maintain the proper balance of chemicals, called acids and bases, in the body. Decreased carbon dioxide or increased bicarbonate level makes the body too alkaline. There are different types of alkalosis such as: respiratory alkalosis, which is caused by a low carbon dioxide level in the blood. This can be due to: fever, lack of oxygen, lung disease, or liver disease; hypochloermic alkalosis is caused by an extreme lack or loss of chloride, from prolonged vomiting; hypokalemic alkalosis is caused by the kidneys’ response to an extreme lack of potassium, this can occur from taking certain water pills. Compensated alkalosis occurs when the body returns to the acid-base balance to normal in cases of alkalosis, but bicarbonate and carbon dioxide levels remain abnormal. Symptoms of alkalosis can include: confusion, hand tremor, light-headedness, muscle twitching, vomiting, and numbness or tingling in the face, hands, or feet. Treatment for alkalosis depends on

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.

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

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

The case study stated above depicts a disease called Tay Sachs disease. This rare inherited disease involves a progressive destroying of nerve cells in the brain and spinal cord. The most common form of Tay Sachs disease becomes apparent in infancy (Goldberg). The major symptoms of this disease are lipid accumulation in brain cells, mental deficiencies, blindness, and death in childhood. Tay Sachs is commonly found in Jews from central Europe and there is a 1 in 3500 chance of it occurring. Other places where the mutations are common are in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana (Goldberg). The general prognosis is that even with the best of care,

Baldwin el al (2010) was curious to find out if long-term dietary therapy with dietetic reinforcement would result in a treatment for Adult Refsum Disease (ARD), a peroxisome disorder (2010). What is known about this topic is that it is a genetic mutation. High levels of phytanic acids (PA), particularly from beef and dairy products, in patients causes some common symptoms such as, muscle weakness, poor balance, and hearing loss. If not properly cared for, ARD can result in deadly infection or illness (2010). Researches do not know for sure how plasma levels are determined in patients suffering from ARD (2010). Also, there is no known cure for this disorder. The researchers theorized that, the longer participants were exposed to therapy, the

Phenylketonuria (PKU), is the most common inborn error of amino acid metabolism, results when a deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body’s ability to metabolize the essential amino acid phenylalanine. This leads to accumulation of phenylalanine in body fluids. Elevated of phenylalanine levels negatively impact cognitive function, and individuals with classic phenylketonuria almost always have intellectual disability unless levels are controlled through dietary or pharmacologic treatment (Georgianne L Arnold, 2014).

DKA is a metabolic disorder characterized by long-lasting hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from deficiencies in insulin secretion, action or both (Wolfsdorf et al., 2007).

Kyphosis is a forward adjusting of the back. Normally has a forward curve of 20 to 40 degrees. Some adjusting is typical, however the expression "kyphosis" for the most part relates to a misrepresented adjusting of the back. While kyphosis can happen at any age, it's most regular in more older women. Age-related kyphosis frequently happens after osteoporosis debilitates spinal issues that remains to be worked out point that they split. Different sorts of kyphosis are found in newborn children or young children because of mutation of the spine or wedging of the spinal bones after some time. A kind of kyphosis that happens in youthful teens is known as Scheuermann’s disease. It is brought on by the wedging together of a few bones of the spine (vertebrae) consecutively. The reason for this condition is still unknown. One specific kind of kyphosis is Scheuermann's kyphosis, otherwise called Scheuermann's ailment. A radiologist initially found Scheuermann's in the mid-1920s, and the condition is named after him. Scheuermann's kyphosis is described by wedge-molded vertebrae that cause the thoracic spine to bend forward excessively.

Metabolism is a process in which chemicals and enzymes break down food in the digestive system to make energy. The food is converted into simple sugars, energy and amino acids with the help of the mitochondria. A body can use this energy right away or it can store the energy in tissues such as liver, muscles, and body fats. A metabolic disorder happens when something goes wrong with the metabolic process because of abnormal chemical reactions. The metabolic disorder causes some substances to be produced either too much or too little, resulting in unhealthy digestive conditions. Metabolic disorders can affect the breakdown of carbohydrates, lipids, or amino acids. Metabolic disorders can also happen if an enzyme or vitamin required to carry out a chemical reaction goes missing. One of the rarest, inherited metabolic disorders is Alkaptonuria. Alkaptonuria occurs when there is a build up of homogentisic acid (HGA) that causes the urine to turn black when exposed to air. The buildup of HGA gets deposited throughout the body and usually attaches to connective tissues and cartilages

Inborn Errors of Metabolism are group of rare disorders characterized by metabolic pathways abnormalities leading to underproduction of necessary metabolites. One such disorder is Maple Syrup Urine Disease (MSUD) otherwise known as Branched-chain Ketoaciduria, a dangerous condition in which over saturation of amino acids in the blood can lead to toxicity progressing to encephalopathy, neurodegeneration, coma or respiratory failure.

In the 20th century, genetic testing was initiated to determine whether an individual had a genetic disorder or not. Newborns were tested for a condition known Phenylketonuria (PKU). PKU is a condition where by a buildup of an amino acid known as phenylalanine in a baby’s body leads to intellectual impairment and possible brain damage. This amino acid is built up when a baby lacks an enzyme that converts phenylalanine into another amino acid called tyrosine. The screening tool used is known as the Guthrie test whereby blood is collected from the heel of a new born and tested for the presence of PKU. If the PKU content is above 1-2mg/dl, then the baby has PKU. Early detection of this condition has helped to preserve the brain function of the child. Also, the child is

Phosphorylase Deficiency is a rare inherited disease where the body is not able to break down glycogen in muscle cells. Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and liver. It is also known as McArdle’s disease. People who get this disease experience fatigue and failure during activities such as jogging, swimming or even walking. It is first present in a person's teens or twenties, but they can appear anytime from infancy to adulthood and experience some symptoms. It is usually diagnosed in adulthood. The National Organization for Rare Disorders states, “The prevalence of GSD-V in the Dallas-Fort Worth, TX area has been estimated at 1:100,000 and the prevalence in Spain has been reported at 1:170,000” (NORD). The condition is caused by a recessive gene. This means that one abnormal copy of the gene is passed from each parent to the affected child. The child will then have inherited two abnormal copies of the gene. People who have

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 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