The Dynamics of a Lipidosis

Abstract

Metachromatic leukodystrophy (MLD) is the most common inborn error of metabolism affecting the white matter of human brain. In 1958, both Jatzkewitz¹ and Austin² demonstrated independently that the sulfatide concentration in the central nervous system (CNS) was increased in MLD, and a similar increase of sulfatide in peripheral nerve, kidney, liver, gallbladder, and urine has also been reported.^3,4 Austin first pointed to an enzymatic defect in MLD by demonstrating a deficiency of arylsulfatase A.^5,6 In vitro desulfation of sulfatide by a cerebroside sulfatase was first accomplished by Mehl and Jatzkewitz⁷ with a preparation of hog kidney. Subsequently, this enzyme also was isolated from normal human kidney and was found to be lacking in the kidney from a patient with MLD.⁸ Cerebroside sulfatase activity depends upon two components of relatively high molecular weight, one heat-labile, the other heat-stable.⁸ It appears that, in MLD,