Back to Search
Start Over
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.
- Source :
-
Clinical genetics [Clin Genet] 1976 May; Vol. 9 (5), pp. 495-504. - Publication Year :
- 1976
-
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 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.
- Subjects :
- Adolescent
Female
Fibroblasts enzymology
Galactosidases metabolism
Humans
Leukocytes enzymology
Radiography
Skin enzymology
Corneal Diseases enzymology
Corneal Diseases genetics
Galactosidases deficiency
Gangliosidoses enzymology
Gangliosidoses genetics
Mucopolysaccharidosis IV diagnostic imaging
Mucopolysaccharidosis IV enzymology
Mucopolysaccharidosis IV genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0009-9163
- Volume :
- 9
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 817853
- Full Text :
- https://doi.org/10.1111/j.1399-0004.1976.tb01603.x