Symptoms And Symptoms Of Krabbe 's Disease

Krabbe disease is a genetic disorder affecting the nervous system (Stanley 2005). Krabbe disease affects the breakdown of myelin coating and destroys brain cells (Stanley 2005). This can hurt the process of brain function and how the person can deal with every day activities. Myelin is a coating that coats the nerve and lets the messages get sent faster, it also protects the nerves and the nervous system (Stanley 2005). It is absolutely important and needed for the nerve cells to communicate and body functions to all work properly (Stanley 2005). As nerves get bigger, myelin is always being built, broken down, recycled, and rebuilt (Stanley 2005). To break down enzymes, metabolize fats, carbohydrates, and protein, you need myelin (Stanley 2005). Without myelin, many problems can occur.

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop mild symptoms later on and worsen throughout the years. The symptoms include: loss of motor skills or muscle movement, vision and hearing loss, intellectual disabilities and dementia, and even can cause paralysis. The most common way to notice a child

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

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

Around the same time as Tay’s discovery, a young physician in New York named Bernard Sachs examined a baby girl with very similar symptoms. Sachs reported that since the first time the child had been examined, she never attempted any voluntary movements nor did it seem as if there were any signs of increasing mental development. In addition, by this time, she was completely blind. The child died just before her second birthday and her parents sent her body to Sachs for postmortem examination. It was during this examination that Dr. Sachs saw that the cerebrum was abnormal and took a sample of tissue taken from the cerebral cortex. This too Sachs found to be profoundly abnormal in appearance. Dr. Sachs also noticed a “detritus like” buildup in the cell walls (Cowan 133-135). Sachs continued to examine children with the same symptoms and postmortem results over the next decade. He also began reading similar case reports including that of Tay’s in medical literature.

Krabbe disease is a disorder in the nervous system in which the patient becomes unable to function correctly. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. A large cell of a primary germ is found clustered together in the space between the skull and the brain causing it to destroy the cells. Although, this disease generally directed at infants it may also develop in an older child or adult.

As a congenital malformation commonly affecting children born with Spina Bifida, the Arnold-Chiari malformation, or Chiari Malformation Type II, involves the irregular extension of both the cerebellar tonsils and the brain stem tissue into the opening to the spinal canal – the foramen magnum (NINDS, 2013). Typically, the brain stem and the cerebellum sit above the opening to the spinal canal, where the brain stem houses most of the cranial nerves that supply the body. Providing the control centres for vital bodily functions such as breathing, regulation of the body’s internal environment through maintenance of heart rate and blood pressure, as well as providing sensory and motor control to a significant portion of the body (Joynt, 2014), the Arnold-Chiari malformation causes substantial problems for patients. Likewise, the congestion of these structures in the spinal canal limits the flow of the cerebrospinal fluid (CSF) from the brain to the spinal cord (Medway, 2006), causing other medical issues that become regularly associated with Spina Bifida as a result, such as hydrocephalus (Columbia Neurosurgery, n.d.). Issues associated with the Arnold-Chiari malformation can only be relieved, rather than treated, through surgical processes that aim to eliminate or reduce these symptoms (WebMD, 2014).

Which are coma, feeding difficulties, lethargy, seizures, vomiting, and urine that smells like maple syrup. In the urine, there will be signs of ketones. Ketones are the substances your body breaks down for energy. So, if it’s in your urine that means that your body is not getting energy from it. There will also be an excess acid in the blood. There are few treatments to this disease. Treatments involve eating a protein free diet, fluids and sugars can also be given through an IV. You also might need dialysis through your belly and veins to clear out any abnormalities in your blood. With this disease, you will need to constantly be on a very special diet. For infants, they need to be fed formula with low levels of leucine, isoleucine, and valine. While adults should avoid foods with leucine, isoleucine, and valine. The reason why dieting does help lessen the symptoms is that if you do not eat food with the affected amino acids then your body would not have the buildup of BCAAs and other substances which will cause health problems. If you do not follow the diet and take precautions it can cause neurological damage. Even if you diet like you are supposed to you are still susceptible to get the symptoms because high amount of stress and certain illnesses can cause high amount of amino acids in your body which your body will not be able to break down. This can cause

Tay-Sachs disease is an autosomal recessive disease of lysosome storage characterized by progressive neurologic degeneration. Children affected by Classic Infatile Tay-Sachs disease manifest the first symptoms at around 6 months and die before reaching 5 years of age. The signs and symptoms are severe including deafness, blindness, dementia, and recurrent convulsions during the terminal stage when affected children are confined. When symptoms appear in adolescence or early adulthood, this is called the Late-onset TaySachs disease (chronic form), a rare variant phenotype. A juvenile form is also distinguished, with an intermediate presentation. This appears between ages two to five, but can occur anytime in childhood. This disease was named

Tay-Sachs Disease is a rare fatal hereditary disease, occurring chiefly in infants and children, characterized by a red spot on the retina, gradual blindness, and paralysis. In infants, it is a progressive disease that is unfortunately always fatal. It is a rare metabolic disorder with severe neurologic symptoms.When you get this disease it causes fatty acids to start breaking down. Theses fatty acids are called lipids. Without Hex-A lipids start building up and eventually destroy the nerve cells in the brain. This is what makes the nervous system stop functioning properly.

Tay-Sachs disease is a disorder in the central nervous system. It is a disorder that most commonly affects infants. It is a disease that is most commonly always fatal. Tay-Sachs can also occur in teens and adults, causing less not fatal symptoms, although this occurs rarely. This disease is caused because you are missing an enzyme in the body named Hexosaminidase. Without this enzyme a fatty element called Ganglioside builds up on lysosomes which then this overcrowds the cells causing this to damage the nerve cells in the body but mainly on the brain. The effect on children begins in the fetus during the pregnancy. A baby with the disease appears normal until six months of age, when it’s development slows down. Children with this disease

Due to the wide variability of the many symptoms and effects, affected males with KS may have all of the symptoms and some may only have a few of the effects. Common symptoms are sparse body hair, tallness, infertility, small testes, and gynecomastia. As said before, many males with Klinefelter syndrome do not show many of these effects on the body but that does not mean that

The diagnosis may also be suggested by ventriculomegaly (surplus of fluid in the lateral ventricles within the developing brain) and increased subarachnoid space. Some forms of the disease are also associated with microcephaly, which is another feature that can be easily detected during the final three months of

Other names for Klinefelter Syndrome is the abbreviation KS. The cause of this disorder is an extra X chromosome on a male sex chromosomes. Therefore the male would have the genotype of XXY instead of the preferred XY. While this disease does affect the human throughout their entire life and as of now is incurable, it can be detected through prenatal testing. The only group affected from this genetic error are males; this error is only found with X and Y chromosomes not only the X.

Klinefelter’s syndrome is a genetic condition about the difference of the male's physical and mental development with this syndrome. Klinefelter's is also known as XXY syndrome, XXY trisomy, mosaic syndrome, and Poly-X Klinefelter's syndrome. In 1942, Dr. Harry Klinefelter discovered and named Klinefelter’s Syndrome. Dr. Klinefelter was working at the Massachusetts General Hospital in Boston where he found nine men with this syndrome.