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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Constantopoulos, G. Spellacy, E. Shull, R. M. Neufeld, E. F. |
| Abstract | A disease discovered in three Plott Hound littermates was found to be associated with a profound and specific deficiency of alpha-L-iduronidase (mucopolysaccharide alpha-L-iduronohydrolase; EC 3.2.1.76) in fibroblasts and leukocytes. The pedigree was consistent with autosomal recessive inheritance. A markedly increased amount of dermatan sulfate and heparan sulfate was excreted in urine. Fibroblasts cultured from the skin of the affected dogs accumulated excessive 35S-labeled mucopolysaccharide; this accumulation could be decreased to a normal level by exogenous human high-uptake alpha-L-iduronidase (Hurler corrective factor) as well as by secretions of normal human or canine fibroblasts. The correction was inhibited by mannose 6-phosphate. Maturation of alpha-L-iduronidase in normal canine fibroblasts followed the pathway previously observed in human fibroblasts; no cross-reactive material was observed in the cells or in secretions from the fibroblasts of the affected dogs. The canine disorder thus resembles mucopolysaccharidosis I in all biochemical parameters tested; the clinical appearance of the animals is closest to Hurler-Scheie syndrome, a form of alpha-L-iduronidase deficiency of intermediate severity. The animal model should prove valuable for therapeutic experiments. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 19 |
| Volume Number | 80 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 1983-10-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Dog Diseases Enzymology Glycoside Hydrolases Deficiency Iduronidase Mucopolysaccharidosis I Veterinary Skin Animals Cells, Cultured Disease Models, Animal Genetics Fibroblasts Metabolism Leukocytes Lysosomes Pedigree Research Support, U.S. Gov't, P.H.S. Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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