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Assignment # 01 Topic: the biochemistry of human disease Course code: BIOT 313 Submitted by: Kamran Aslam 11-10171 Submitted to: Dr. Kanwar shoaib
Forman Christian College Lahore
(A chartered university)
irritability. . leading to further malnutrition. Poor appetite. Tryptophan is the amino acid that cannot be synthesized by the human body so that it has to be taken from food like groundnuts and beans. restlessness. Signs and symptoms: The characteristics appear as dermatitis (inflammation of the skin as result of allergic reaction to an external agent). nausea and vomiting are common. and nervous system. It may be difficult to eat and drink. confusion. This condition has been observed as a significant problem among food aid dependent populations during food emergency and refugee programmes. abdominal pain. Other nervous symptoms include headache. diarrhea ( a condition in which faeces are discharged frequently and in liquid form). Causes of pellagra: Pellagra is multiple-deficiency disease associated with diets providing low levels of tryptophan and often involving other B vitamins resulting in changes in the skin.Pellagra history and occurrence: 1 Earliest recorded reports of pellagra were made almost 250 years ago the condition quickly became associated with maize based diets and was seen spread throughout Europe. In South Africa more than 100000 cases were reported each year during 1970s. Disease was considered a public health problem in many maize consuming African and Asian countries throughout the 1960s and 1970s. gastrointestinal tract. And can lead to death the fourth (D). anxiety. and dementia (the three Ds ).
an officer in the British Royal Navy. Scurvy has been extremely rare diseases since the late 1940s. British naval commander James Lind.1. scurvy was reported in selected communities in south Africa among populations of malnourished urban populations whose diet consisted mainly of maize porridge. Causes and occurrence of scurvy: 3 Scurvy results because humans cannot synthesize vitamin C (ascorbic acid) in our bodies. More recently scurvy has been reported in groups of soldiers and prisoners and among alcoholics. because it contained a little amount of vitamin C. We lack the enzyme L-gluconolactone which converts L-gluconogammalactone to Lascorbic acid (vitamin C). . Only the group given oranges and lemons recovered. conducted a study on 12 patients with scurvy. the problem was confined to infants that were not breast-fed and whose food most commonly was confined to cow’s ilk. The greatest number of outbreaks occurred in the 1980s in Somalia. small quantities of meat and vegetables which were usually overcooked that they were needed. Evidence of scurvy outbreaks among refugee populations entirely dependent on emergency relief food that provides less than 2 mg of vitamin C per day per person. bread. He divided the patients into 6 groups of 2 and gave each group a different remedy. Only four outbreaks have been reported since January 1994. History of scurvy: 2 In 1747.
but not among crews of Western navies and officers who consumed a Western-style diet. Takaki Kanehiro.Symptoms: Symptoms of scurvy include: It usually takes about three months for the symptoms of Scurvy to appear. and screams when moved. In some rare cases. Beriberi :(Vitamin B1 Deficiency) History: In 1884. and bleeding under the skin can possibly occur. the individual’s teeth many become loose. bleeding in the lining of the eyelids and arthritis. The baby may not move his/her legs. 169 men out of 376 developed the disease and 25 died. observed that beriberi was endemic among low-ranking crew who often ate nothing but rice. a British-trained Japanese medical doctor of the Japanese Navy. weight loss. In 1883. symptoms include loss of appetite. purple spongy gums that will bleed very easily. aches. In infants. via New Zealand and South America that lasted for 9 months. and wounds that don’t heal. fever. symptoms will include swelling of the legs. As the disease progresses. irritability. Kanehiro learned of a very high incidence of beriberi among cadets on a training mission from Japan to Hawaii. fatigue. he conducted an experiment in which another ship was deployed . weakness. failure to gain weight. The most common symptoms include swollen. On board. With the support of the Japanese Navy. It also includes fatigue.
and beans. 1865 – November 11. except that its crew was fed a diet of meat. fish. it was later shown that beriberi results from the deficiency of thiamine (vitamin B1). demonstrated that beriberi is caused by poor diet. which is very low in thiamine because the thiamin-bearing husk has been removed. This convinced Kanehiro and the Japanese Navy that diet was the cause of beriberi. These women were found to be suffering from undernourishment. This was confirmed in 1897. polished rice forming the greater part of their dietary. Beriberi is therefore common in people whose diet excludes these particular types of nutrition e. fresh meat. especially among mothers who are suckling babies. Dutch physician and assistant to Christiaan Eijkman in Netherlands Indies.on the same route and under identical conditions. to which is attributed the occurrence of beriberi in infants. At the end of the voyage. The polishing process . a Dutch physician and pathologist. In 1901. Beriberi is caused by a lack of thiamine (vitamin B1). when Dr. Beriberi may be found in people whose diet consists mainly of polished white rice. as a result of food crisis. Their breast milk is poor in quality. this crew had suffered only 14 cases of beriberi and no deaths. Causes and occurrence of beriberi: A high incidence of beriberi among women is reported in the Philippines. particularly whole grain bread. Christian Eijkman. rice. green vegetables. etc. barley. milk. Gerrit Grijns (May 28. fruit. 1944). Thiamine occurs naturally in unrefined cereals and fresh foods. correctly interpreted the disease as a deficiency syndrome. Indeed.g.
In complex cases. damaged sensory perception. the disease may cause heart failure and death. Pernicious Anemia: History: 4 The British physician Thomas Addison first described the disease in 1849. The first workable treatment for pernicious anemia began when Whipple made a discovery in the course of experiments in which he bled dogs to make them anemic. then fed them various foods to see which would make them recover most rapidly (Whipple was looking for treatments for anemia from bleeding. due to a deficiency of thiamine (vitamin B1). not pernicious anemia). and periods of irregular heart rate. A diet based on un-enriched white rice leaves people vulnerable to the neurological disease beriberi. . Their average survival was between one and three years.removes important nutrients. emotional disturbances. Edema (swelling of bodily tissues) is common. In 1907. from which it acquired the common name of Addison's anemia. Richard Clarke Cabot reported on a series of 1200 patients with Pernicious Anemia. weakness and pain in the limbs. Signs and Symptoms of beriberi: Its symptoms include weight loss. Whipple discovered that ingesting large amounts of liver seemed to .
reporting improvement there also. Pernicious anemia was eventually treated with either vitamin B12 injections. and tried liver ingestion as a treatment for pernicious anemia. typically between 1 and 4 mg (1000 to 4000 mcg) daily. It could be injected into muscle with even less irritation. Folkers of the United States and Alexander R. Germany. and other methods of producing it from bacteria were developed. Todd of Great Britain. but only in some rare cases. Pernicious anemia usually does not occur before the age of thirty. which the discoverers named vitamin B12. Karl A. a person may develop Pernicious Anemia as a result of constant gastritis (an inflammation of the lining of the stomach) or if the person has had . The body needs Vitamin B12 to function.The active ingredient in liver remained unknown until 1948. Causes: The essential factor is a protein that helps the body absorb Vitamin B12. Slightly more women than men are inflicted with this illness. the Vitamin B12 does not absorb well.cure anemia from blood loss. in a paper in 1920. making it possible to treat pernicious anemia with even more ease. The substance was a cobalamin. When the stomach secretions do not have the required amount of essential factor. Children can also be affected. In some cases. Sweden Iceland countries). originally it was thought to only affect whites of Scandinavian (Norway. Occurrence: The disease affects individuals of all races. or else large oral doses of vitamin B12. when it was isolated by two chemists. The new vitamin in liver juice was eventually completely purified and characterized in the 1950s. and it usually begins between the ages of forty and seventy.
Diabetes: History: 5 The history of diabetes started in approximately 1550BC. causing long term neurological problems. The cells in an individual’s body need Vitamin B12. It can also cause a shortness of breath. itching and lack of sensation of the feet and hands. diarrhea. . mentions a rare disease that causes the patient to lose weight rapidly and urinate frequently. Without Vitamin B12 our sensory and motor nerves will be affected. a rapid heart rate. bleeding gums. a loss of sense of smell and loss of response. The individual may also experience personality changes. loss of appetite. This is thought to be the first reference to the disease.surgery to remove their stomach. Symptoms: They are many symptoms that are associated with Pernicious Anemia. They are also some an instance in which individual inherits Pernicious Anemia. tongue problems. low energy. An Egyptian papyrus (thick paper-like material produced from the pith of the papyrus plant).
and autoimmune problems may play a role.Causes of Diabetes Diabetes causes vary depending on your genetic makeup. according to the World Health Organization. or 2. health and environmental factors. The reason there is no defined diabetes cause is because the causes of diabetes vary depending on the individual and the type. Daily injections of insulin are needed. According to the American Diabetes Association. but is more common (especially type 2) in the more developed countries. Occurrence: In 2000. Its incidence is increasing rapidly. ethnicity. viruses. Genetics. Diabetes mellitus occurs throughout the world. Type 1 diabetes: is usually diagnosed in childhood. this number will almost double.8% of the population. In this disease. The exact cause is Unknown.6 million) of Americans age 60 and older have diabetes. It is most common in European countries and also in Asia. Many patients are Diagnosed when they are older than age 20. family history. and it is estimated that by 2030.. Type 2 diabetes: . at least 171 million people worldwide suffer from diabetes.3% (8. the body makes Little or no insulin. approximately 18. There is no common diabetes cause that fits every type of diabetes.
. Dr. which comprise the disease. Gestational diabetes : Is high blood glucose that develops at any time during pregnancy in a woman who does not have diabetes .is far more common than type 1. In 1906. have probably existed for centuries. which is named after its discoverer. It usually occurs in adulthood. a German physician. Alois Alzheimer. Alzheimer's disease: History: 6 The loss of intellectual and social abilities in older age has been recognized and described throughout history. the various disorders. Today this de-generative brain cell disorder is called as Alzheimer's disease. The pancreas does not make Enough insulin to keep blood glucose levels normal. Many people with type 2 diabetes do not Know they have it. although it is a serious condition. however. but young people are Increasingly being diagnosed with this disease. Type 2 diabetes is Becoming more common due to increasing obesity and failure to exercise. found a collection of brain cell problems. often because the body Does not respond well to insulin. It makes up most of Diabetes cases.Women who have gestational diabetes are at high risk of type 2 diabetes and cardiovascular disease later in life. Alzheimer's disease gives the impression of being a disease of the twentieth century.
affected individuals may become confused or confused about what month or year it is. When memory and other problems with thinking start to consistently affect the usual level of functioning.Symptoms of Alzheimer's disease: The onset of Alzheimer's disease is usually gradual. families begin to suspect that something more than "normal aging" is going on. Eventually. persons may become totally incapable of caring for themselves. uncooperative. The oldest. and it is slowly progressive. In late stages of the disease. or be unable to name a place being visited. Memory problems that family members initially dismiss as "a normal part of aging”. patients may wander. The cholinergic hypothesis has not maintained widespread support. unpredictable in mood. Death can then follow. largely because medications intended to treat acetylcholine deficiency have not been very . is the cholinergic hypothesis. Later in the course of the disorder. be unable to engage in conversation. be unable to describe accurately where they live. which proposes that AD is caused by reduced synthesis of the neurotransmitter acetylcholine. Causes: Several competing hypotheses exist trying to explain the cause of the disease. on which most currently available drug therapies are based.
Linus Pauling and colleagues were the first.000) was higher than that observed in United States (20. in 1949. This was the first time a genetic . The higher occurrence of Alzheimer's disease mortality in Puerto Rico versus the United States could be explained by factors such as coding practices.9/100. for example. initiation of large-scale aggregation of amyloid. genetics. Sickle cell anemia:7 History: The disease was named "sickle-cell anemia" by Verne Mason in 1922.000). and health care. socioeconomics. to demonstrate that sickle-cell disease occurs as a result of an abnormality in the hemoglobin molecule.4/100. leading to generalized neuroinflammation. The results showed an increasing trend in Alzheimer's disease mortality rate in both the United States and Puerto Rico. However in Puerto Rico. the Alzheimer's disease mortality rate (32. the Alzheimer's disease mortality rate of Puerto Ricans living in Puerto Rico is much higher than Puerto Ricans living in the United States. Occurrence: Alzheimer's disease mortality rate in Puerto Rico and United States from 1999 to 2004 was analyzed. Interestingly.effective. Other cholinergic effects have also been proposed.
India and the Middle-East. and it was published in their paper "Sickle Cell Anemia. particularly subSaharan Africa. It is also seen in people from South and Central America. and break into pieces that disrupt healthy blood flow. . Someone who inherits the hemoglobin S gene from one parent and normal hemoglobin (A) from the other parent will have sickle cell trait. Sickle cell anemia is inherited from both parents. People with sickle cell trait do not have the symptoms of true sickle cell anemia. Biochemical Causes: Hemoglobin is a protein inside red blood cells that carries oxygen. They can also clog more easily in small blood vessels. Sickle cell disease is much more common in people of African and Mediterranean descent. sickle-shaped cells deliver less oxygen to the body's tissues. especially when exposed to low oxygen levels. Hemoglobin S distorts the shape of red blood cells. a milestone in the history of molecular biology. the Caribbean. a Molecular Disease.disease was linked to a mutation of a specific protein. The distorted red blood cells are shaped like crescents or sickles. Epidemiology: The highest frequency of sickle cell disease is found in tropical regions. and the Middle East. Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. These fragile. Migration of substantial populations from these high prevalence areas to low prevalence countries in Europe has dramatically increased in recent decades and in some European countries sickle cell disease has now overtaken more familiar genetic conditions such as hemophilia and cystic fibrosis.
Signs and Symptoms Related to Anemia: The most common symptom of anemia is fatigue (feeling tired or weak). mouth. Other signs and symptoms of anemia may include: • • • • • Shortness of breath Dizziness Headaches Coldness in the hands and feet Paler than normal skin or mucous membranes (the tissue that lines your nose. and other organs and body cavities) • Jaundice (a yellowish color of the skin or whites of the eyes) .
pdf WHO and FAO report http://www.medscape.com/disorders/pernicious-anemia. http://whqlibdoc.gov/health/dci/Diseases/Sca/SCA_WhatIs.int/hq/2000/WHO_NHD_00.int/hq/1999/WHO_NHD_99.who.ncbi.11.10.htm http://www.nih.vitaminsdiary.html .nhlbi.com/article/125350-overview http://whqlibdoc.nih.nlm.gov/pubmedhealth/PMH0001379/ http://www.who.pdf http://emedicine.