Krabbe Disease Research Paper

418 Words2 Pages
0verview: Krabbe disease is a rare genetic disorder that destroys the myelin of the nerves cell in the brain throughout the nervous system. It is also called globoid cell leukodystropy, which is characterized by the lack of enzyme galactosylceramidase (GALC) situated in chromosomes 14. Symptoms mostly develop between the ages of three to six months. However, when develop in adults and older children, the course of the disease can vary greatly. A Danish neurologist named Knud Haraldsen Krabbe in 1916 identified the disease through his family member. Symptoms: Infant with Krabbe disease are usual at birth. Most symptoms begin with excessive crying, irritability, fevers, feeding problems, vomiting, motor and mental delay, and irregularly seizures. Doctors frequently mistake the signs for those of cerebral palsy. Other symptoms include extreme arching of the back, muscle weakness, and persistent weight loss, deafness, difficulty swallowing that sometimes require tube feeding, loss almost all motor and mental functions; they become blind or death, and can no longer move their body or even say a word.…show more content…
However, calculating the level of GALC enzyme activity does the most precise test. A low or a zero GALC activity level to five percent of the normal amount may indicate the disorder. A blood sample and a small skin sample will be sent to the laboratory to assess the level of GALC activity. Luxol fast blue stain (LFB) may be used under microscope to detect demyelination in the central nervous system may also be used as an aid in the diagnoses of the

    More about Krabbe Disease Research Paper

      Open Document