Krabbe Disease is a very rare and inherited metabolic disorder which destroys body and brain cells by the accumulation of harmful amounts of fatty oils and waxes. Also known as globoid cell leukodystrophy or galactosylceramide lipidosis and is caused by mutations in the GALC gene located on chromosome 14.
In some rare cases Krabbe disease may be caused by a lack of active saposin A. The condition is often fatal and affects the myelin sheath of the nervous system. It is a form of sphingolipidosis because it involves dysfunctional metabolism of sphingolipids. The disease is most often seen in infants and begins before age six months but can also occur during adolescence and adulthood. Krabbe disease is named after the Danish neurologist Knud Krabbe. Illinois, Kentucky, and Pennsylvania have laws to test for Krabbe and other diseases at birth.
The most common symptoms include severe deterioration of mental and motor skills, myoclonic seizures (shock-like contractions of the limbs suddenly), muscle weakness, hypertonia (inability of a muscle to stretch), deafness, optic atrophy, blindness, paralysis, optic nerve enlargement, difficulty swallowing, and spasticity (involuntary and awkward movement).
While there is no known cure for Krabbe disease bone marrow transplantation has been shown to aid cases early in the course of the disease. Physical therapy may help to increase or maintain muscle tone and circulation. Cord blood transplants have proven successful in halting the disease as long as they are administered before noticeable symptoms appearing.