Multiple Sulfatase Deficiencies in Cultured Skin Fibroblasts: Occurrence in Patients With a Variant Form of Metachromatic Leukodystrophy

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.