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November 1967

The Dynamics of a Lipidosis: Turnover of Sulfatide, Steroid Sulfate, and Polysaccharide Sulfate in Metachromatic Leukodystrophy

Author Affiliations

From the Department of Neurology, Harvard Medical School, Cambridge, Mass; the Joseph P. Kennedy, Jr. Memorial Laboratories and the Neurology Service at the Massachusetts General Hospital, Boston; and the Walter E. Fernald State School, Waltham, Mass. Dr. McKhann is a Lt. Joseph P. Kennedy, Jr., Senior Research Scholar and a John and Mary R. Markle Scholar in Academic Medicine. His present address is the Department of Pediatrics, Lt. Joseph P. Kennedy, Jr. Memorial Laboratories for Molecular Medicine, Stanford University School of Medicine, Palo Alto, Calif.

Arch Neurol. 1967;17(5):494-511. doi:10.1001/archneur.1967.00470290048008

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,

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