Description
Krabbe disease (MIM #245200) is an autosomal recessive inborn error of metabolism caused by deficiency of the enzyme galactosylceramidase (galactocerebrosidase). Galactosylceramidase (EC 3.2.1.46) is a lysosomal enzyme involved in the catabolism of galactosylceramide, a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon. Enzyme deficiency results in the build-up of undigested fats affecting growth of the nerve s protective myelin sheath and causes severe degeneration of mental and motor skills. 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. Definitive testing is by direct enzyme analysis. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers, limb stiffness, seizures, feeding
Also known as
Globoid cell leukodystrophy, galactocerebrosidase deficiency, GALC deficiency