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Occurrence in Patients With a Variant Form of Metachromatic Leukodystrophy

Yoshikatsu Eto, MD; Ulrich N. Wiesmann, MD; John H. Carson, PhD; Norbert N. Herschkowitz, MD

Arch Neurol. 1974;30(2):153-156.

Abstract
Five sulfatases (arylsulfatases A, B, and C, cholesterol sulfatase, and dehydroepiandrosterone sulfatase) were reduced or absent in fibroblasts from two patients with a variant form of metachromatic leukodystrophy (MLD). In patients with the late infantile or adult form of MLD, only arylsulfatase A was deficient.

Normal activities of β-galactosidase and of β-N-acetyl-glucosaminidase were found in all fibroblasts tested. Correction experiments performed by mixing fibroblasts from the MLD variant patient with fibroblasts from patients with Hunter or Sanfilippo A syndrome indicated that the MLD variant patient was also deficient in dermatan sulfatase and heparan sulfatase.

Author Affiliations
Berne, Switzerland

From the Department of Pediatrics, University of Berne, Berne, Switzerland.

Footnotes
Accepted for publication Sept 11, 1973.

Reprint requests to Department of Pediatrics, University of Berne, Berne, Switzerland (Dr. Eto).

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