Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency

Clin Genet. 1976 May;9(5):495-504. doi: 10.1111/j.1399-0004.1976.tb01603.x.


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 beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-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 GM1 beta-galactosidase.

Publication types

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

MeSH terms

  • Adolescent
  • Corneal Diseases* / enzymology
  • Corneal Diseases* / genetics
  • Female
  • Fibroblasts / enzymology
  • Galactosidases / deficiency*
  • Galactosidases / metabolism
  • Gangliosidoses* / enzymology
  • Gangliosidoses* / genetics
  • Humans
  • Leukocytes / enzymology
  • Mucopolysaccharidosis IV* / diagnostic imaging
  • Mucopolysaccharidosis IV* / enzymology
  • Mucopolysaccharidosis IV* / genetics*
  • Radiography
  • Skin / enzymology


  • Galactosidases