Information on Krabbe Disease

Krabbe Disease is also known as Globoid Cell Leukodystrophy. Krabbe disease is one of a group of inherited disorders called the leukodystrophies. Krabbe disease may be best known in the United States for the media attention. Approximately 2 million people in the United States are carriers of the genetic deficiency that causes Krabbe Disease. It is likely that Krabbe disease affects 1 in 100,000 people worldwide, with higher incidences reported in some areas. Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (galactosylceramidase).The enzyme galactosylceramide beta-galactosidase (GALC) breaks down several important compounds in the body. In Krabbe disease, there isnt adequate GALC available, and substances which should be broken down begin to accrue. The build-up of these substances damages the nerve cells in the central nervous system, destroying many of them and preventing the repair of others
. Krabbe disease can influence muscle tone and movement, and cause vision and hearing loss, among other effects. In most cases, Krabbe disease develops in babies before six months of age, although it can occur in older children and in adults.Krabbe disease is affects both sexes similarly. It is also affects people of all ethnic backgrounds. A higher incidence has been reported in a few remote communities in Israel. Most patients with Krabbe disease have the infantile form. Couples with an affected child with each pregnancy have a 25% chance of an affected child, a 50% chance of a healthy child who is a carrier, and a 25% chance of a healthy child who is not a carrier. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, and seizures, feeding difficulties, vomiting, and slowing of mental and motor development.Other symptoms embrace muscle weakness, spasticity, deafness, op
tic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also happen. There are also juvenile and adult-onset cases of Krabbe disease, which have like symptoms but slower progression. There is no definite treatment for Krabbe disease. Bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Patients may benefit from physical and occupational therapy. Genetic counseling is suggested for persons with a family history of Krabbe disease who are considering having children.