描述
Globoid Cell Leukodistrophy, (GLD; Krabbe disease; Galactosylceramide Lipidosis) is caused by a defect in the GALC gene which codes for Galactocerebrosidase. A defect in this enzyme results in accumulation of galactosylceramide and psychosine in central nervous system. 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. 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. 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. Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit cases early in the course of the disease.