Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency |
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| Authors: | John S. O'Brien E. Gugler A. Giedion U. Wiessmann N. Herschkowitz C. Meier J. Leroy |
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| Affiliation: | Departments of Pediatrics, University of Antwerp, Belgium.;Neurology, University of Bern, University of Antwerp, Belgium.;Children's Hospital of Aarau, University of Antwerp, Belgium.;Children's Hospital of Zurich, Switzerland, University of Antwerp, Belgium.;Department of Pediatrics, University of Antwerp, Belgium. |
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| Abstract: | A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid β-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1β-galactosidase activity averaged 7 % of the normal mean while asialofetuin β-galactosidase and 4-methylumbelliferyl-β-galactosidase averaged 1.4 % and 3.5 %, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50 % of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1β-galactosidase. |
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