What is Pompe Disease? Pompe disease is a genetic disorder which deals with a mutation within a gene called the GAA gene, glucosidase, alpha; acid, and produces an enzyme to produce a buildup of glycogen, a complex sugar, within body cells which cause the lysosomes to not reuse the sugar properly. The name of this enzyme is called alpha-glucosidase, more commonly known as acid maltase. The GAA gene is located on Chromosome 17 on the q arm between the positions 25.2 and 25.3 (GAA, paragraph 4). A GAA gene is used to make normal acid maltase which breaks down the glycogen into glucose, a simple sugar molecule. Lysosomes are used to digest, or break down, proteins and sugars for energy. There are different mutations of this gene which causes the disease of Pompe in people. (GAA, paragraph 3) Some of these mutations consist of the alteration of the protein building block, the destruction or inserting of the genetic information located within the GAA gene. What does Pompe do? Pompe impairs the normal functioning of different tissues, muscle and organs, mostly muscles. Pompe has been known for three forms of classifications. “These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset” (Pompe disease, paragraph 2). Classic infantile-onset is where infants, within a few months of life, obtain this disease. The baby becomes frail and small because of them not gaining weight and under the normal growth level. Some of the symptoms include “muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects” (Pompe disease, paragraph 3). If the disease is not treated immediately then death is cause by the failure of the heart. Non-clas... ... middle of paper ... ...Johnson, P., & Blachford, S., Ed. (2010). Pompe disease. In Gale encyclopedia of genetic disorders. Retrieved from Gale Student Resources in Context database. (Accession No. ZHFSNC075777404) NINDS pompe disease information page. (2013, February 20). Retrieved January 14, 2014, from National Institute of Neurological Disorders and Stroke website: http://www.ninds.nih.gov/disorders/pompe/pompe.htm Pompe disease. (2014, January 13). Retrieved January 18, 2014, from Genetics Home Reference website: http://ghr.nlm.nih.gov/condition/pompe-disease The successful effort to develop myozyme® and bring new hope to families affected by pompe disease. (2014). Retrieved January 26, 2014, from Genzyme website: http://www.genzyme.com/promos/pompe-movie.aspx United pompe foundation. (2014). Retrieved January 14, 2014, from United Pompe Foundation website: http://www.unitedpompe.com/
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
McKusick, Victor A., Cassandra L. Kniffin, and Joanna. "#268800-Sandhoffs Disease." Online Mendelian Inheritance In Man, 25 Mar. 2009. Web. 10 Feb. 2014. .
Progeria causes the child to have the physical characteristics of an old person. The first time it is visible that something is wrong is the age of one- or two-years-old. It mainly affects the cardiovascular system. It not only affects the cardiovascular system but also the skin and appearance. That is why at age ten they look and have the cardiovascular problems of an eighty year old.
Retinitis pigmentosa can be caused in a person in numerous ways. It normally runs in families, however, it can also be caused from a mutation. We believe my grandmother developed the disorder from a genetic mutation, as no one else in my family has ever had the disorder or has developed it as of...
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
What are the risks and limitations of genetic testing?. (2014, April 21). Genetics Home Reference, Retrieved from http://ghr.nlm.nih.gov/handbook/testing/riskslimitations
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
FCCMG, and Andre Mattman, MD, FRCPC. "Primer on Mitochondrial Disease: Biochemistry, Genetics, and Epidemiology." British Columbia Medical Journal 53.4 (2011): 172-76. BC Medical Journal. Web. 18 Apr. 2014. .
NIH, National Center for Biotechnology Information. (2015). Cyclothymic Disorder, ncbi.nlm.nih.gov Web. 22 July 2015. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002517
According to Ralf Sudbrak and other authors, a mutation in the gene ATP2C1 is associated with the cause of the Hailey-Hailey Disease. The disease is an autosomal dominant inherited skin disorder. The defect in the gene alters the expression of calcium pumps thus altering calcium signaling and their role in maintaining the epidermis (Sudbrak et al. 1). The gene encodes a protein that acts as a calcium pump in cells. This protein pumps calcium ions into the lumen of the Golgi apparatus. Calcium ions are vital in cell-to-cell adhesion processes and differentiation, and if the calcium pump does not function properly, the affected cells will not stick together, thus causing damage to the skin (Szigeti 1). The protein encoded by ATP2C1 has the same transmembrane organization, including all the conserved domain characteristics like ATP binding, phosphorylation, and conformational changes enzymes, of Phosphorylation-type (P-Type) ATPases (Sudbrak et
muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.
Approximately one in three thousand children are born with this disorder and it does not progress over time. There does not appear to be any precedence as to sex or race and it is developed at conception. There are several types of Arthrogryposis which include Amyoplasia, Distal, Classic, and Syndromic. According to the Shriners hospitals for children, Amyoplasia is an overall lack of muscular development and growth with contracture, a loss of joint motion, and deformity of most joints. Babies with this type have dense fibrous tissue and fat instead of skeletal muscle. Distal affects several joints usually in the hands and feet, and range of motion may be slightly limited. Classic usually affects the hands, wrists, elbows, shoulders, hips, feet and knees with different degrees of severity. The most severe case can affect almost joint ...
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...