Abstract
Clinical, radiological and biochemical findings of two new cases of Sanfilippo disease, type D are reported. A high percentage of heparan sulfate was found in the urinary glycosaminoglycan pattern and a severe deficiency of N-acetylglucosamine-6-sulfate sulfatase was demonstrated in skin cultured fibroblasts from the patients. One of the patients presented mild intellectual impairment which differentiates him from the other cases described to date.
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Coppa GV, Maiorana A, Gabrielli O, Calisti L, Caramia G (1977) I-cell disease (mucolipidosis type II): diagnostic importance of serum and leucocyte lysosomal enzymes. Ital J Pediat 3:45–49
Coppa GV, Gabrielli O, Maiorana A, Sani S, Benincasa A, Belsito M, Montali U (1978) Undersulfated urinary glycosaminoglycans in preterm newborns. Biol Neonate 33:18–24
Di Ferrante N, Neri G, Neri ME, Hogsett WE (1972) Measurement of urinary glycosaminoglycans with quaternary ammonium salts. An extension of the method. Connect Tissue Res 1:93–98
Figura K von, Kresse H (1972) The Sanfilippo B corrective factor: an N-acetyl-α-D-glucosaminidase. Biochem Biophys Res Commun 48:262–269
Figura K von (1977) Human α-N-acetylglucosaminidase. I. Purification and properties. Eur J Biochem 80:525–533
Gatti R, Borrone C, Durand P, De Virgiliis S, Sanna G, Cao A, Figura K von, Kresse H, Paschke E (1982) Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. Eur J Pediatr 138:168–171
Kamp JJP van de, Niermeijer MF, Figura K von, Giesberts MAH (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 20:152–161
Klein U, Kresse H, Figura K von (1978) Sanfilippo syndrome: deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase in skin fibroblasts of Sanfilippo C patients. Proc Natl Acad Sci USA 75:5185–5189
Kresse H (1973) Mucopolysaccharidosis III A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes. Biochem Biophys Res Commun 54:1111–1118
Kresse H, Neufeld EF (1972) The Sanfilippo A corrective factor.—Purification and mode of action. J Biol Chem 274:2164–2170
Kresse H, Paschke E, Figura K von, Gilberg W, Fuchs W (1980) Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Proc Natl Acad Sci USA 77:6822–6826
Kresse H, Fuchs W, Glössl J, Holtfrerich D, Gilberg W (1981) Liberation of N-acetylglucosamine-6-sulfate by human β-N-acetylhexosaminidase A. J Biol Chem 256:12926–12932
Matalon R, Dorfman A (1974) Sanfilippo A syndrome. Sulfamidase deficiency in cultured skin fibroblast and liver. J Clin Invest 54:907–912
Matalon R, Wappner R, Deanching M, Brandt IK, Horwitz A (1982) Keratan and heparan sulfaturia: glucosamine-6-sulfate sulfatase deficiency. Ann Clin Lab Sci 12:234–238
McKusick VA, Neufeld EF, Kelly TE (1978) The mucopolysaccharide storage diseases. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 1282–1307
O'Brien JS (1972) Sanfilippo syndrome: profound deficiency of α-acetylglucosaminidase activity in organs and skin fibroblasts from type B patients. Proc Natl Acad Sci USA 69:1720–1722
Vladutiu GD, Rattazzi MC (1975) Abnormal lysosomal hydrolases excreted by cultured fibroblast in I-cell disease (mucolipidosis II). Biochem Biophys Res Commun 67:956–960
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This work was supported by a grant from National Research Council (C.N.R.), Program of Preventive Medicine (Subproject of Neonatal Preventive Medicine), Ct. no. 81.00371.83
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Coppa, G.V., Giorgi, P.L., Felici, L. et al. Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. Eur J Pediatr 140, 130–133 (1983). https://doi.org/10.1007/BF00441662
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DOI: https://doi.org/10.1007/BF00441662