Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A)

Pediatr Res. 1998 Jul;44(1):74-82. doi: 10.1203/00006450-199807000-00012.

Abstract

Mucopolysaccharidosis IIIA (MPS IIIA or Sanfilippo A, McKusick 25290) was diagnosed in two adult wire-haired Dachshund littermates. Clinical and pathologic features paralleled the human disorder; both dogs exhibited progressive neurologic disease without apparent somatic involvement. Pelvic limb ataxia was observed when the dogs were 3 y old and progressed gradually within 1-2 y to severe generalized spinocerebellar ataxia. Mentation remained normal throughout the course of the disease. A mucopolysaccharide storage disorder was indicated in both dogs by positive toluidine blue spot tests of urine. The diagnosis of MPS IIIA was confirmed by documentation of urinary excretion and tissue accumulation of heparan sulfate and decreased sulfamidase activity in fibroblasts and hepatic tissue. Mild cerebral cortical atrophy and dilation of the lateral ventricles were grossly evident in both dogs. Light microscopically, fibroblasts, hepatocytes, and renal tubular epithelial cells were vacuolated. Within the nervous system, cerebellar Purkinje cells, neurons of brainstem nuclei, ventral and dorsal horns, and dorsal ganglia were distended with brightly autofluorescent, periodic acid-Schiff-positive, sudanophilic material. Ultrastructurally, visceral storage presented as membrane-bound vacuoles with finely granular, variably electron-lucent contents. Neuronal storage appeared as membranous concentric whorls, lamellated parallel membrane stacks, or electron-dense lipid-like globules. This represents the first reported animal disease homolog of the human Sanfilippo A syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Brain / pathology
  • Brain / ultrastructure
  • Dog Diseases / enzymology
  • Dog Diseases / genetics*
  • Dog Diseases / pathology
  • Dogs
  • Female
  • Fibroblasts / enzymology
  • Fibroblasts / pathology
  • Glycosaminoglycans / metabolism
  • Heparitin Sulfate / metabolism
  • Heparitin Sulfate / urine
  • Humans
  • Hydrolases / deficiency*
  • Kidney / enzymology
  • Kidney / pathology
  • Liver / enzymology
  • Liver / pathology
  • Lysosomes / enzymology
  • Male
  • Mucopolysaccharidosis III / enzymology
  • Mucopolysaccharidosis III / genetics
  • Mucopolysaccharidosis III / pathology
  • Mucopolysaccharidosis III / veterinary*
  • Neurons / pathology
  • Neurons / ultrastructure
  • Skin / enzymology
  • Skin / pathology

Substances

  • Glycosaminoglycans
  • Heparitin Sulfate
  • Hydrolases
  • N-sulfoglucosamine sulfohydrolase