ipl-logo

Gaucher Disease Research Paper

687 Words3 Pages

Gaucher (Gaucher’s) Disease is a lipid (fatty material) storage disease that affects the metabolic system. The disease is caused by a deficiency with the glucocerebrosidase (GBA) gene which provides directions on making an enzyme. The deficiency complicates the storing or break down of fatty substances properly. The enzyme that the GBA gene produces, beta-glucocerebrosidase, is active in lysosomes which are a structure in cells that act as recycling centres as it digests bacteria and recycles decaying cell components. This housekeeping enzyme breaks down glucocerebrosidase into glucose and ceramide which is fat.

Gaucher Disease is inherited in families when two copies of the abnormal gene is present. The disease is inherited in an autosomal …show more content…

Type 1 of Gaucher Disease does not affect the central nervous system, more importantly the brain. Type 1 is the most common type, the condition of the disease can range from mild to severe and symptoms can appear anytime. The signs and symptoms of the disease can include easy bruising, fatigue, enlarged spleen or liver, bone problems, low red blood cells and lung disease. Medication and an enzyme replacement could treat this common type of Gaucher Disease depending on the severeness of the disease.

Type 2 of Gaucher Disease, also known as acute neuronopathic Gaucher Disease, affects the central nervous system and symptoms are faster to appear. This type affects a human from infancy and is very life threatening. Humans that are diagnosed with type 2 usually do not live past infancy. In contrast of type 2, type 3 of Gaucher Disease (chronic neuronopathic Gaucher Disease) is slower and symptoms show later in childhood.

Type 2 and 3 share similar signs and symptoms and they include abnormal eye movement and growth, seizures, enlarged spleen or liver as well as brain problems.
There is no cure for type 2 however, for type 3 it is possible to have an enzyme replacement, joint replacement, surgery to remove swollen spleen and medication that strengthens bones, prevent fatty buildup and eases

Show More
Related
362 Words | 2 Pages

Jimmie Bowman was seen in followup for CIDP, causing previous weakness and numbness of his distal lower extremities. He states that the strength of his distal lower extremities [____] continues improved and is staying normal. He has occasional mild feeling of numbness of his feet, but states this is staying down to what he can tolerate. He is not having pain of his feet. He is no longer on Imuran.

Read More
2040 Words | 9 Pages

CJC 1295 For Fat Loss and See Fast Results Unhealthy eating habits and lack of exercise cause the body to create fat. Stress and lack of sleep can destabilize the endocrine system, causing the body to store more fat. Eventually, you find that you have gained weight. You decide to lose the weight through fat loss.

Read More
589 Words | 3 Pages

According to WebMD, the first type of spinal muscular disease is the most serious variant due to the fact that most children with type 1 fail to live past two years of age from breathing issues because the muscles that control breathing are feeble. Symptoms of type 1 include limp arms and legs as well as the trouble swallowing. Moreover, type 2 spinal muscular atrophy occurs with children from six to eighteen months old. According to the National Organization for Rare Diseases, children with type 2 are able to sit on their own, but fail to walk more than 10 feet, however, once they mature to a teenager, they will be unable to sit independently. A symptom common for people diagnosed with type 2 is the fingers quivering (National Organization for Rare Diseases).

Read More
461 Words | 2 Pages

There is no known cure for SLE, the aim is to reduce symptoms. Treatment can differ depending on how severe the symptoms are and which part of the body is being affected. Medication that can be provided are Anti-inflammatory medication for joint pain and stiffness, Corticosteroids, to reduce the immune responses, antimalarial drugs for skin and joint problems and steroid medication. Diet and exercise should be taken into to consideration, avoiding certain foods and minimizing stress could decrease the likely hood of triggering symptoms. SLE is one of the more fatal forms of rheumatic diseases that affects women more than men.

Read More
480 Words | 2 Pages

It is also typically found in people with certain ancestry such as people of Ashkenazi Jewish heritage and people of Cajun heritage. Some people may have the genetic mutation but not get the disease. Common symptoms of Tay-Sachs include muscle weakness, stiff muscles, loss of muscle coordination, muscle contractions, fainting, speech problems, and mental illness. Blindness, difficulty swallowing, hearing loss, seizures, vision loss, and impaired voice are other symptoms that are common. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is also characteristic of this disorder.

Read More
776 Words | 4 Pages

It seems to be pretty much incurable. Doctors have tried to help cure it but those who they helped died and then those who help usually get the sickness and also die. It is so contagious they seem to catch it whenever they go near the sick so it is not much help. 9.) The few cures we have included rubbing onions on sores, rubbing cut up snakes on the sores or scrubbing vinegar all over the body.

Read More
555 Words | 3 Pages

Also, reactions like photosensitivity, loss of appetite, ulcers, and hair loss may occur (Shiel, et al., 1996.) Treatment Since the cause of SLE is unknown, Systemic Lupus Erythematous does not have a defi-nite cure (Shiel, et al., 1996.) All further treatment mechanisms only alleviate symptoms and lessen inflammation of organs, but do not eliminate them. Another factor to consider when going about treatment of Systemic Lupus Erythematous is the severity of the disease. For example, one with SLE that has few symptoms may need little or no treatment.

Read More
152 Words | 1 Pages

A lot of the children are born with the disabilities but rarely can occur later on in life. For example a seizure, seizures occur when abnormal signals from the brain change the way the body functions. It also occurs when a large number of the cells send out an electrical charge at the same time. There are three types of seizures, Non-epileptic Seizures, Partial Seizures, and Generalized Seizures. Non-epileptic Seizures occurs with an injury to the head or an illness.

Read More
448 Words | 2 Pages

When someone is infected with Mad Cow Disease they get a disorder that if formally called Creutzfeldt-Jakob disease. Creutzfedt-Jakob disease would cause the human to have demtia and possible death. Its a very rare diesae, its so rare that there are less than 1,000 cases per year about Mad Cow Disease. What are the symptoms of having Mad Cow Disease?

Read More
937 Words | 4 Pages

There are many symptoms of the disease, but you will only get so many of them depending on your age. The disease’s symptoms range from a migraine all the way to quite severe strokes, pseudo bulbar palsy and subcortical dementia depending on how long you have been dealing with it. Signs of the disease may be waves of random migraines, strokes or mood disorders between 35-55 years old. Below is an image showing age widths of when you can experience certain symptoms. Symptoms are slow to progress though and usually by the mid 60’s people affected by it experience dementia and cognitive issues.

Read More
3102 Words | 13 Pages

9 Glucocerebrosidosis (Gaucher’s disease) is a rare lysosomal storage disease. A deficiency of beta glucosidase leads to degeneration of the white matter in the cerebrum, cerebellum and spinal cord. Clinical signs may be seen at 4 to 8 months of age and include: ataxia, tremors and hyperactivity. The disease has been documented in the Silky terrier and reported anecdotally in the Australian terrier. 6, 7 Myasthenia gravis and Scottie cramp were reported in dogs in the survey.

Read More
652 Words | 3 Pages

People that have or had cystic fibrosis know it is a life you do not want to live. There are no cures for the disorder but special treatment may help. There are many treatments currently

Read More
683 Words | 3 Pages

However, there are treatments that can help with some of the symptoms such as, pain reliever, antibiotics, blood transfusions, and C. As I mentioned earlier it is estimated that 3 million people in the United States have sickle cell trait. Sickle cell trait is different from having actual sickle cell. D. For example, if someone has sickle cell trait and his partner has sickle cell trait they may produce a child with sickle cell disease.

Read More
787 Words | 4 Pages

Gene therapy is an option. Gene therapy basically changes the damaged genes is someone’s body by inserting the new gene in a virus to act

Read More
787 Words | 4 Pages

We have demonstrated in rodent models that older rodents are unable to increase insulin secretion in proportion to the increased demands imposed by insulin resistance [9], thus contributing to impaired glucose tolerance. Similarly, studies in humans have demonstrated a secretory defect that is consistently observed even after controlling for insulin action. Many factors contribute to the decrease in insulin secretion in aging, including the age-associated loss of Sirt1-mediated GSIS [11], decreased β-cell sensitivity to circulating incretins [10], age-associated decrease in mitochondrial function, as well as increased oxidative stress [12]. In this section of

Read More

More about Gaucher Disease Research Paper

Related Topics

Open Document