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Galactoseuria
Biochemistry of inborn errors of metabolism
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Galactosemia
Galactosemia is an inborn error of metabolism. Because of energy barriers, essentially none of the chemical reactions that take place in living things could occur at any measurable rate without the presence of a catalyst. Most catalysts in living things are enzymes that depend on their structure to be able to function. Their structure is determined by their coding on DNA. Inborn errors of metabolism, like the one seen in galactosemia, are caused by defective genes.
Galactosemia is an inherited metabolic disorder in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body (Chung 1997). Galactose epimerase, the enzyme in the liver that is required to break down galactose, is deficient in galactosemia patients (“Galactosemia” 1995 and Wohlers, Christacos, and Harreman 1999). This enzyme works as a catalyst to speed up the breakdown of galactose. When there is a deficiency of this enzyme, the body cannot metabolize galactose as quickly as needed, causing a toxic buildup (Olendore, Jenyan, and Bayden 1999).
This disease is inherited in an autosomal recessive manner, this means that galactosemia is only present in individuals with two defective copies of any one of the three genes that causes it (Chung 1997). These genes are the genes that code for the three enzymes, galactosemia-1-phosphate-uridyl transferase (GALT), galactokinase (GALK), and uridyl disphosphogalactose-4-epimerase (Olendore, Jenyan, and Bayden 1999). Although carriers have less than normal enzyme activity, carriers of the disease are unaware that they are carrying a defective gene since no symptoms are evident (Chung 1997). If two carriers of the same defective gene have children, the chance of their child getting galactosemia by having two copies of the same defective gene is 25% for each pregnancy (Elsas 1999). Every cell nucleus has two copies of each gene, therefore, if only one of the two copies is defective, enough of the enzyme is made and the pathway of galactose metabolism is not blocked (Olendore, Jenyan, and Bayden 1999).
Most states have now included testing for galactosemia in newborn screening programs (“Galactosemia” 1995). However, if galactosemia is not found in a screening program, some symptoms appear within the...
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...al of death (“Galactosemia” 1995).
Unfortunately, many children are born each year with galactosemia and there is no medication that can treat it (Chung 1997). However, galactosemia is manageable and the symptoms can be greatly reduced by taking a few precautions. First of all, babies whose GALT activity is less than 10% need to have all their milk products replaced by formula such as Isomil or Prosobee, which are free of lactose. Soy products contain other sugars such as sucrose, fructose, and non-galactose polycarbohydrates, which supply the needed energy to the baby. All lactose containing foods such as dairy products, tomato sauces, candies, and medicines should be avoided fro the remainder of the patients life (Elsas 1999). Finally, legumes, organ meats, and processed meats also contain galactose and should be avoided (Olendore, Jenyan, and Bayden 1999). Management of the diet becomes less important after infancy and early childhood because milk products are no longer the primary source of energy (Elsas 1999). So, although galactosemia can be fatal, it is highly treatable and a patient can live a normal life with only a few changes in their diet.
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
For example, if a person had been able to consume lactose products for their life with no problems, but in an unfortunate event had to have a portion of his or her small intestine removed, there would be a change in the number of present lactase enzymes in the stomach. Because the lactase enzyme is stored in the small intestine, the person may now experience lactose intolerance due to the decrease in the presence of lactase. Knowing where the lactase enzyme is stored can aid physicians in understanding what will happen after a procedure or the introduction of a new medication. The experiment was conducted to determine the optimal ph of lactose required to produce the maximum amount of glucose. It was predicted that the optimal ph of lactose would be most efficient at lactose ph 6, and that the lower the ph, the amount of glucose produced would increase
Lactase is an enzyme found in the digestive system. It is essential to the complete digestion of sugar in whole milk and milk products. Lactase specifically breaks down lactose, a complex sugar. Lactase cannot be absorbed by the body unless it is broken down by lactase into glucose and galactose. According to webMD, “Lacking lactase in their intestines, a person consuming dairy products may experience the symptoms of lactose intolerance…Abdominal cramping, flatulence (gas) and diarrhea can occur when a lactose intolerant person consumes milk products.” ("Lactase Enzyme oral : Uses, Side Effects, Interactions, Pictures, Warnings & Dosing - WebMD", n.d.) Lactase is not recommended for use in CHILDREN younger than 4 years of age. Safety and effectiveness in this age group have not been confirmed. (Kluwer, 2014)
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Tim O’ Brien alternates between narrative and descriptions of the tangible items that they soldiers carry. He remembers seemingly everything that his squad mates were carrying and provides an “emotionless recitation” of the weights of each of the items the soldiers carried into the field. He frequently uses the term “humping” to describe how the soldiers carry their gear; making them appear more uncivilized, like animals. As he switches back to mentioning the intangible items, such as the experiences of his leader Jimmy Cross and his love Martha, the emotional weights of each soldier is felt by the reader. This contrast in style affirms that they soldiers are human and provides emphasis to the weight these intangible objects have on the soldiers.
When the child was first born (his name is Lionel), one of the first major decisions we made was determining what type of food we should give to him. I never leaned toward either one of the options more than the other, so I decided to feed him by giving him both breast milk and formula. This was a good decision in my opinion, because he got the nutrients and antibodies from the breast milk, as well as the ability to eat
The child that I tested will be referred to as K.L. I tested her on April 14th 2016. K.L. is 2 years old, with her exact age being 2 years 9 months and 14 days. I called and asked her mother if she would mind dropping K.L. off with me for a few hours so I could perform the test, and then pick her back up after the test was complete. This test more accurate when the caregiver is not present. K.L. has a step sister and a baby brother on the way. She has always been in the daycare setting, because her grandmother is a provider. K.L. was delivered full term via planned cesarean section due to her mother’s small pelvis. There was no complications during this pregnancy. K.L. weighted 8 lbs. 4 oz. and was 20 ½ inches long at birth, now weighting in at ...
Charlotte Perkins Gilman’s short story, "The Yellow Wallpaper," is the disheartening tale of a woman suffering from postpartum depression. Set during the late 1890s, the story shows the mental and emotional results of the typical "rest cure" prescribed during that era and the narrator’s reaction to this course of treatment. It would appear that Gilman was writing about her own anguish as she herself underwent such a treatment with Dr. Silas Weir Mitchell in 1887, just two years after the birth of her daughter Katherine. The rest cure that the narrator in "The Yellow Wallpaper" describes is very close to what Gilman herself experienced; therefore, the story can be read as reflecting the feelings of women like herself who suffered through such treatments. Because of her experience with the rest cure, it can even be said that Gilman based the narrator in "The Yellow Wallpaper" loosely on herself. But I believe that expressing her negative feelings about the popular rest cure is only half of the message that Gilman wanted to send. Within the subtext of this story lies the theme of oppression: the oppression of the rights of women especially inside of marriage. Gilman was using the woman/women behind the wallpaper to express her personal views on this issue.
"The Yellow Wallpaper," by Charlotte Perkins Gilman, depicts a woman in isolation, struggling to cope with mental illness, which has been diagnosed by her husband, a physician. Going beyond this surface level, the reader sees the narrator as a developing feminist, struggling with the societal values of the time. As a woman writer in the late nineteenth century, Gilman herself felt the adverse effects of the male-centric society, and consequently, placed many allusions to her own personal struggles as a feminist in her writing. Throughout the story, the narrator undergoes a psychological journey that correlates with the advancement of her mental condition. The restrictions which society places on her as a woman have a worsening effect on her until illness progresses into hysteria. The narrator makes comments and observations that demonstrate her will to overcome the oppression of the male dominant society. The conflict between her views and those of the society can be seen in the way she interacts physically, mentally, and emotionally with the three most prominent aspects of her life: her husband, John, the yellow wallpaper in her room, and her illness, "temporary nervous depression." In the end, her illness becomes a method of coping with the injustices forced upon her as a woman. As the reader delves into the narrative, a progression can be seen from the normality the narrator displays early in the passage, to the insanity she demonstrates near the conclusion.
When first reading the gothic feminist tale, “The Yellow Wallpaper” written by Charlotte Perkins Gilman, one might assume this is a short story about a women trying to save her sanity while undergoing treatment for postpartum depression. Gilman herself had suffered post-natal depression and was encouraged to undergo the “rest cure” to cure her hysteria. The treatment prescribed to Gilman resulted in her having a very similar experience as the narrator in the short story. The “perfect rest” (648), which consisted of forced bed rest and isolation sparked the inspiration for “The Yellow Wallpaper.” This story involving an unreliable narrator, became an allegory for repression of women. In “The Yellow Wallpaper”, Gilman illustrates the seclusion and oppression of women in the nineteenth century society by connecting the female imprisonment, social and mental state, and isolation to the objects in and around the room.
Celiac disease is a fairly common disease but is not very well known. Celiac disease, or celiac sprue, is a digestive condition triggered by consumption of the protein gluten (Hill, Clinical manifestations and diagnosis of celiac disease in children, 2011). Gluten is a protein found in wheat, barley, rye, and oats. People with celiac disease who eat foods containing gluten experience an immune reaction in their small intestines, causing damage to the inner surface of the small intestine and an inability to absorb certain nutrients (Hill, Clinical manifestations and diagnosis of celiac disease in children, 2011).
Is there any food on earth that can provide the PERFECT nutrition to a human? Yes, and it is breast milk. Breast milk is the perfect nutrition. This superior food contains hormones, live antibacterial and antiviral cells and essential fatty acids (What Makes Human Milk Special?, Mar-Apr 2006). All of which are helpful in protecting against any harm. Sicknesses in infants are lowered by the help that breast milk gives. Breastfed children are sick less often than children who aren’t breastfed (What Makes Human Milk Special?, Mar-Apr 2006). Breast milk contains all the nutrients that an infant needs as it continues to grow. When the child is brought into the world it has no way to fight off any d...
Ketose is any sugar that contains a ketone group. Ketone bodies are the normal physiological defenses in starvation. Ketone bodies are normal products of lipid and pyruvate and found within the liver. When an impaired or absent carbohydrate intake occurs, the body increases its production of ketone bodies and metabolizes them as an energy source. Ketogenesis, which is the production of ketone bodies occurs in ketogenic diets, resulting in a ketotic state( Miller-Keane 1997). So, “when the requirement for glucose cannot be met by other means, the tissues of the body rely increasingly on ketone bodies as an energy source” (Volpe 1983).
Rationale: These laboratory test results have been shown to be fair indicators of malnutrition. Ackley and Ladwig p. 576
Genetics play an important part in the development of type 1 and type 2 diabetes. The most common of the two types of diabetes is type 2. Type 2 diabetes is being observed in the younger generation. It has becoming increasingly common in younger children, but the genes that are responsible for causing it are scarcely defined.("Genetic Factors in Type 2 Diabetes") What we do have well knowledge of is that the disease is a result of one gene mutating. In type 2 diabetes many genes are said to be involved in the developing of the disease, we just are not sure which gene it is that is being mutated.(1,4) However, the risk of having the disease is affected by your siblings or parents having it. Immediate relatives to individuals with type 2 diabetes are at higher risk of getting the condition rather than a person with no relative with diabetes. If the mother of the father has diabetes then the grandchild has a fifteen percent risk of having type 2 diabetes, but if both the father and the mother of the offspring have diabetes then the offspring's risk would increase by seventy-five percent chance of being affected with the condition. On the other hand, if the offspring were to have a sibling that was a non-identical twin with diabetes it would have a ten percent chance of being affected, but if it had an identical twin the risk would increase by ninety percent. Type 2 diabetes is known to run in families, but as to how it is inherited is not really specified. Scientists think that some environmental factors act as accelerators to diabetes, increasing the development. Some genes, known as susceptibility genes increases the risk of developing diabetes to individuals that carry the genes. ("Diabetes and Genetics") A way to find this gen...