Krabbe Disease
According to the website ‘Genetic Home Reference’, Krabbe disease, that affects the nervous system; and According to Kugler (2013) it usually affects an estimate of only 1 in 100,000 people worldwide which makes it very rare. Krabbe disease is also part of leukodystrophies, a group of disorders resulting from demyelination or the loss of myelin. It is caused by the insufficient amount of galactosylceramidase, which needed to make myelin. Myelin is the substance that is surrounding and protecting the nerve fibers. Without myelin, brain cells die, which in turn causes the nerves in the brain and other parts of the body to not work properly. People with this disorder also have an abnormal presence of globe-shaped cells that usually contains two or more nucleus called the globoid cells.
The disease has the possibility to develop later in life but it is mostly present in infants. There is no cure for this disease as of the moment, which makes it very deadly; and infants having this disease will have a high chance of dying before reaching two years old.
Krabbe disease is a genetic disorder, meaning the person with the disease got it from his or her parents. It is caused a permanent change in the DNA sequence making up a certain gene or what other people call a genetic mutation. Chromosome 14 is where the gene for Krabbe disease located and a child can only inherit the disease if he or she got the abnormal gene from both parents. The abnormal gene then results in the deficiency of galactosylceramidase (GALC), an important enzyme that the body needs. GALC is the enzyme needed to make and maintain myelin, without GALC, the nerves will remain unprotected; a substance called galactolipids will also build up in the brain ...
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...e if the parent or the child has GALC deficiency which would then confirm that presence of the disease; the test could also be done to unborn children especially if the parents are carrying the defective gene. A lumbar puncture could also be done to get a sample of the cerebrospinal fluid which would contain high levels of protein if the person has the disease.
References:
Cafasso, J. (2012, July 3). Krabbe Disease. Retrieved from http://www.healthline.com/health/krabbe-disease?toptoctest=expand
Kugler, M. (2013, October 4). Krabbe Disease. Retrieved from http://rarediseases.about.com/cs/krabbedisease/a/020104.htm
Krabbe Disease (2014, February 25). Retrieved from http://www.ghr.nlm.nih.gov/condition/krabbe-disease
Tegay, D. (2012, November 9). Krabbe Disease Clinical Presentation. Retrieved from http://emedicine.medscape.com/article/951722-clinical#a0217
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Tay-Sachs disease is a rear inherited disorder that affects the nerve cells (neurons) in the brain as well as the spinal cord. This disease is an autosomal recessive genetic disorder rather than a sex-linked disorder like some think. In order to inherit Tay-Sachs disease, the gene must be inherited by both parents (Gravel, 2003). If the gene is inherited only by one parent, then the individuals will only be a carrier and has the potential of passing on this disease to their children. The odds of inheriting Tay-Sachs disease if both parents are carriers are 1-4 (25%). The chromosome responsible for the abnormality or mutation that causes Tay-Sachs disease is chromosome 15. Chromosome 15 is the one that codes for production of the enzyme hexosaminidase A (Hex-A) (Gravel, 2003).
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40,000 to 60,000 have Gaucher disease or about 10,000 people worldwide (Hughes, 2013). In addition, Gaucher disease has a higher frequency among Jews of Ashkenazi (Eastern European) decent: up to 1 in 450 people.
Amniocentesis offers many advantages to the expecting mother. This test determines whether the unborn baby has genetic or chromosomal abnormalities. It identifies several hundred genetic disorders including some of the most common such as Down syndrome and Edward’s syndrome. It can also identify other genetic disorders such as Tay-Sachs disease, Huntington’s disease, Sickle cell disease, and cystic fibrosis. Other testing techniques such as ultrasounds pick up on these problems. Only amniocentesis is able to provide the information needed to diagnosis these problems in the womb. Amniocentesis can also indicate whether the baby is at risk for spina bifida and anencephaly. The test is more than 99 percent accurate in diagnosing these various conditions. It is the only test that can provide results which are accurate. Other important reasons to have the test include checking the well being of the baby. This is important if the mother has blood sensitization, such as Rh sensitization. Also the test can determine whether the baby’s lungs are mature enough for an early delivery if the mother appears to be in premature labor.
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
A patient known as Mr. Wright was diagnosed with terminal lymphoma, which effected various parts of his body. Doctors were fighting to help keep him alive for as long as they could, however, when they were left with no other options they tried giving him a dose of a new cancer drug called “Krebiozen”. They remained very skeptical of the new drug and its effectiveness, however Mr. Wright believed that it would cure his cancer. Three days after his first treatment, he gained the strength to get out of bed after months of being lifeless. After ten days, he was well enough to go home and his cancer was noticeably diminishing. Krebiozen was recognized as an anti-cancer drug by many physicians in the 1950’s, and it was claimed that in one study,
Ways to know you have the disease is full body pain, abnormal cramps, frequent bowel movement, diarrhea, vomiting, rashes or blemishes on skin, cloudiness in cornea, decreased sweating, fever, and loss of appetite. Knowing that you have this illness takes a lot of determination. You have to monitor, manage, evaluate, and treat the disease. Testing available for Fabry disease is enzyme assay, it measures the amount of alpha GAL enzyme act in the blood. For females enzyme assay may not be as useful as genetic testing. Female screening is not simple. The blood test can be misleading because of the random X-inactivation. The GAL gene is more accurate tha...
is usually first diagnosed in children when they are about 2 years old. A child may
It is commonly diagnosed in childhood but can arise at any age and is not currently
While the disease is not often fatal, it is essential to treat the disease early.
The Mayo Clinic (2014) states that there are many tests that can be run on a baby, such as laboratory, imaging, and genetic testing and nerve conduction studies. These are all tests that can determine if a baby is born with Krabbe Disease. Laboratory and genetic tests take blood and skin samples to see how low GALC enzymes are, the lower the enzymes the more likely the child has Krabbe Disease, but just this test alone will not tell how severe or how far along the disease is. Examples of imaging tests are MRI’s, a 3-D scan, and CT scans, a 2-D scan, these tests can tell how much myelin has been removed from the nerves. A nerve conduction study tells how fast or slow nerve signals are being sent to the brain and other parts of the body, in Krabbe Disease these nerve signals slow down. In conclusion, it is always best to test newborns as soon as possible, the sooner a baby is tested, the higher their chances are of getting help to slow down the process of Krabbe
Lysosomes are important organelles in eukaryotic cells. Lysosomes are responsible for breaking down used material in the cell. Lysosomal malfunction can lead to a variety of diseases. Gaucher disease is a rare genetic condition. It is caused by a defective gene that limits the amount of an enzyme called glucocerebrosidase. This enzyme usually breaks down a fat called glucocerebroside. Excess amounts of glucocerebroside builds up in the spleen, liver, lungs,bones, and brain. There are three types of Gaucher disease. Type I causes a wide range of symptoms including fatigue, easy bruising, slow or stunted growth in children, intestinal problems, trouble breathing, seizures, and developmental delays. In type II, rigidity and seizures develop in
Approximately fifty percent of the people affected by a rare disease are children. Thirty percent of children with rare diseases will not live to see their fifth birthday. Krabbe disease is one of the most life threatening diseases in the world. This disease is a rare and deadly disorder that has to do with the nervous system. The disease usually affects younger children, between the ages six months and two years old. There are many different things that Krabbe disease does to the body.