Krabbe Disease by Aurore Maillard Cause inherited disorder

Krabbe Disease by Aurore Maillard

Cause - inherited disorder (3, Krabbe disease) - when a child inherits two mutated genes, one from each parent causing little or no production of the enzyme galactocerebrosidase resulting in the accumulation of galactolipids. (3, Krabbe disease) - an abundance of galactolipids is toxic and destroys the protective coating (myelin) of nerve cells (3, Krabbe disease) Figure 1, Genetic Krabbe disease

Symptoms - In infants common symptoms are: - Feeding difficulties - Unexplained crying - Fever with no sign of infection - Muscle spasms - Loss of head control - Frequent vomiting - These symptoms will worsen and become: - Progressive loss of ability to swallow, breathe, hear Figure 2, Krabbe disease’s effect on the brain

Prognosis - developed in infants before 6 months (3, Krabbe disease) - can also develop in order children and adults but the course of the disease may vary (3, Krabbe disease) - usually results in death at age 2 (3, Krabbe disease) - There have been cases where people have managed to live beyond the teens with regular treatment (2, Jackson) Figure 3, rare child with Krabbe disease

Treatment/Cure - no cure (3, Krabbe disease) - stem cell transplants are successful in young infants before the symptoms develop (3, Krabbe disease) - stem cell transplant is when diseased bone marrow is replaced by stem cells that develop into healthy bone marrow. (5, Stem)

Moral Factor - In order to be able to treat this disease, the children must be tested before the symptoms develop and must perform a series of test including MRI, eye examinations and genetic testing. (1, Cafasso) - However these tests are expensive and the treatment is risky and has uncertain efficacy. (4, Lantos) - There also many dilemmas with testing very young children due to its dangers. (4, Lantos)

Bibliography 1. 2. 3. 4. 5. Cafasso, Jacquelyn. "Krabbe Disease. " Healthline. N. p. , 03 July 2012. Web. 05 Jan. 2015. <http: //www. healthline. com/health/krabbe-disease#Diagnosis 5> Jackson, Cathy, Pr, and Gurvinder Rull, Dr. "Krabbe's Disease. "Patient. co. uk. Ed. Hayley Willacy. N. p. , 19 Aug. 2011. Web. 07 Jan. 2015. <http: //www. patient. co. uk/doctor/Krabbe%27 s-Disease. htm>. Krabbe Disease. " Definition. Mayo Clinic, 03 June 2014. Web. 04 Jan. 2015. <http: //www. mayoclinic. org/diseasesconditions/krabbe-disease/basics/definition/con-20029450> Lantos, John D. "Dangerous and Expensive Screening and Treatment for Rare Childhood Diseases: The Case of Krabbe Disease. "Developmental Disabilities Research Reviews. U. S. National Library of Medicine, 08 May 2014. Web. 7 Jan. 2015. <http: //www. ncbi. nlm. nih. gov/pmc/articles/PMC 4014301/>. "Stem Cell Transplant. " Definition. N. p. , n. d. Web. 04 Jan. 2015. <http: //www. mayoclinic. org/tests-procedures/stem-celltransplant/basics/definition/prc-20013565>. Pictures Figure 1: "Krabbe Disease. " Mayo. Clinic. com Health Library -. N. p. , n. d. Web. 07 Jan. 2015. <http: //www. riversideonline. com/health_reference/nervous-system/ds 00937. cfm >. Figure 2: "Krabbe Disease. " Krabbe Disease. N. p. , n. d. Web. 07 Jan. 2015. <http: //www. gfmer. ch/genetic_diseases_v 2/gendis_detail_list. php? cat 3=172 >. Figure 3: ". " Krabbe Disease. N. p. , n. d. Web. 07 Jan. 2015. <http: //www. hxbenefit. com/krabbe-disease. html>.