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Asian Pacific Journal of Nursing

Volume 10, Issue 2, 2023
Mcmed International
Asian Pacific Journal of Nursing
Issn
XXX-XXXX (Print), 2349 – 0683 (Online)
Frequency
bi-annual
Email
editorapjn@mcmed.us
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Abstract
Title
KRABBE DISEASE: A DEGENERATIVE NEUROLOGICAL DISORDER
Author
Sanjeeta Dara*
Email
sanjeetasandeepgrewal@gmail.com
keyword
Symptomatic, Krabbe disease, Lysosomal, Leukodystrophy.
Abstract
Krabbe disease is a rare autosomal recessive, inherited genetic disease and usually deadly disorder of the nervous system. Krabbe disease is caused by mutations in the GAC gene locaton chromosome 14 (14q31) . People with Krabbe disease are not able to create enough of a substance called galactosylceramidase, which is needed to make myelin. Myelin is a material the body uses to surround and protect nerve fibers. Without this protection, cells in the brain will die, and the nerves in the brain and other parts of the body will not work properly. Symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, seizures, feeding difficulties, vomiting and slowing of mental and motor development. There is no cure for Krabbe disease. However, symptomatic treatments may be given to patients to help alleviate their symptoms. Newer technique as bone marrow transplantation and cord blood stem cells are effective if introduced before onset of symptoms. If there is a family history of Krabbe disease, prenatal tests can be done to screen the fetus for the condition. Genetic counseling is recommended for people with a family history of Krabbe disease if they are considering having children.
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