Krabbe Disease Research Paper
Brief description of the disorder:
Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old. When the myelin sheath does not grow or function properly, it leads to nervous system damage.
What the disorder affects (cells, organs, systems, populations?):
This disorder is a genetic degenerative disorder that affects the central and peripheral nervous systems. The symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Additional symptoms include muscle weakness, spasticity, deafness, and blindness.
Why it is …show more content…
Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability. It is better to know about the disease and recognize the symptoms before it is too late. If a person is diagnosed with Krabbe disease before symptoms begin or if symptoms develop later in life, a bone marrow transplant or stem cell transplant may be an effective treatment. By studying more about diseases, we learn how they are incubated, developed, how they are spread, and what drugs or treatments are useful in treating them. By doing this we can hope to reduce suffering and perhaps eradicate the