Recent developments in the biochemistry of globoid and metachromatic leucodystrophies.
Galactosylceramides and their sulphates are the main constituents of myelin sheath of the nerve cell. Two genetically determined disorders are the results of an inability to enzymatically hydrolyse these glycolipids. Thus the deficiency of galactosylceramide beta-galactosidase results in globoid cell leucodystrophy and the reduced activity of enzyme, arylsulphatase A is responsible for the disease Metachromatic leucodystrophy. Both these disorders are fatal and are characterized by marked demyelination and severe mental retardation. Since homognenous enzyme preparations of galactosylceramide beta-galactosidase and arylsulphatase A are now available, a possibility of enzyme replacement therapy in globoid and metachromatic leucodystrophies has been discussed.
D001921:Brain / Q000201:enzymology; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000627:therapeutic use; D002554:Cerebrosides / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000201:enzymology; D007787:Lactose Intolerance; D007965:Leukodystrophy, Globoid Cell / Q000378:metabolism* / Q000628:therapy; D007966:Leukodystrophy, Metachromatic / Q000378:metabolism* / Q000628:therapy; D008099:Liver / Q000201:enzymology; D011609:Psychosine / Q000378:metabolism; D013433:Sulfoglycosphingolipids / Q000378:metabolism; D013466:Sulfurtransferases / Q000172:deficiency; D001616:beta-Galactosidase / Q000627:therapeutic use
D002554:Cerebrosides; D013433:Sulfoglycosphingolipids; D011609:Psychosine; D013466:Sulfurtransferases; D002553:Cerebroside-Sulfatase; D001616:beta-Galactosidase