Krabbe disease

Infants with Krabbe disease are normal at birth.

There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.

The corresponding defect for galactocerebrosides is Krabbe disease.

Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy.

Patients with late-onset Krabbe disease tend to have a slower progression of the disease and live significantly longer.

Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit cases early in the course of the disease.

Krabbe disease (Globoid cell leukodystrophy)

As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin.

Krabbe disease may also be found in cats and in dogs, particularly Westies and Cairn Terriers.

GALC: galactosylceramidase (Krabbe disease)

Krabbe disease is caused by mutations in the GALC gene located on chromosome 14 (14q31), which causes a deficiency of an enzyme called galactocerebrosidase.

Globoid cell leukodystrophy (Krabbe disease) is a severe, autosomal recessive disorder that results from deficiency of galactocerebrosidase (GALC) activity.

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system.

Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for Krabbe disease, following the diagnosis of his son, Hunter, in 1997.

New York State started a pilot study to screen for Krabbe disease in 2006, largely due to the efforts of Jim Kelly, whose son, Hunter, was affected with the disease.

Kelly devoted much of his post-football life to his son, Hunter, who was diagnosed with Globoid-Cell Leukodystrophy (Krabbe disease) shortly after his birth on February 14, 1997 .

The main members of this group are Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay-Sachs disease and Metachromatic leukodystrophy.

Jim Kelly, the retired quarterback for the Buffalo Bills, testified today, describing in wrenching detail the life of his 2-year-old son, Hunter, who suffers from Krabbe disease, a rare neurological disorder.

It has been suggested Psychosine causes axonal degeneration in both the CNS and PNS by disrupting lipid rafts and may play a role in Krabbe disease.

The changes to muscle tissue that characterize the disorder can also occur in association with many other disorders or conditions including other congenital muscle disorders, Krabbe disease, Lowe's syndrome, myotonic dystrophy, fetal alcohol syndrome, and a variety of brain malformations such as cerebellar hypoplasia.