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. This condition is inherited in an autosomal recessive pattern. The disease is named for the Danish neurologist Knud Haraldsen Krabbe.
Krabbe disease occurs in about 1 in 100,000 births. A higher prevalence, about 1 in 6000, has been reported in some Arab
communities in Israel
Krabbe disease is caused by mutations
in the GALC gene
, which causes a deficiency of an enzyme
called galactosylceramidase. The buildup of unmetabolized lipids affects the growth of the nerve's protective myelin sheath (the covering that insulates many nerves
) and causes severe degeneration of motor skills. As part of a group of disorders known as leukodystrophies
, Krabbe disease results from the imperfect growth and development of myelin
Infants with Krabbe disease are normal at birth. 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. In the first stages of the disease, doctors often mistake the symptoms for those of cerebral palsy
. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.
The disease may be diagnosed by its characteristic grouping of certain cells (multinucleated globoid cells), nerve demyelination and degeneration, and destruction of brain cells. Special stains for myelin (e.g; luxol fast blue) may be used to aid diagnosis.
Although there is no cure for Krabbe disease, bone marrow transplantation
has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy
may help maintain or increase muscle
tone and circulation. A recent study in the New England Journal of Medicine
reports that cord blood
transplants have been successful in stopping the disease as long as they are given before overt symptoms appear.
In infants, the disease is generally fatal before age 2. Patients with late-onset Krabbe disease tend to have a slower progression of the disease and live significantly longer.
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. Hunter Kelly died of the disease on August 5
at the age of 8. He was one of the longer living patients with infantile Krabbe disease.
This article incorporates public domain text from the United States National Library of Medicine and the National Institute of Neurological Disorders and Stroke.