Glycolipid storage diseases

Ramsay SL, Maire I, Bindloss C, Fuller M, Whitfield PD, Piraud M, Hopwood JJ, Meikle PJ (2004) Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry in utero indicators of lysosomal storage diseases. Mol... 

SwEELEY and Klionsky (1963, 1964, 1966) isolated from organs of ACD patients two glycolipids, which they identified as ceramide-dihexoside and ceramide-trihexoside. Their findings confirmed the assumption of Ruiter et al. (1947) who suggested classification of ACD as a lipid storage disease. They did not confirm the postulate that the stored material was a phospholipid. 

In 1963, SwEELEY and Klionsky succeeded in chemical identification of the stored material in ACD. They isolated from the kidney of a patient (Klionsky et al. 1966) large amounts of a glycolipid incorporating three hexose units and another component with two hexose units and sulfur and thus established that ACD was not a phospholipid storage disease. 

Sulfatide, which is particularly abundant in the white matter of the brain, is degraded by arylsulfatase A. This enzyme needs the assistance of a protein cofactor, SAP-B [18], Deficiency of this enzyme leads to metachromatic leukodystrophy, a disease which is due to sulfatide accumulation in various organs and which primarily affects the white matter of the brain [39]. Also the inherited deficiency of SAP-B leads to a lysosomal storage disease which resembles metachromatic leukodystrophy. However unlike typical metachromatic leukodystrophy not only sulfatide but also additional glycolipids, e.g. globotriaosylceramide, accumulate due to defects in several points of the pathway of GSL degradation [20]. 

---