Article
[Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis].
Klinische Monatsblatter fur Augenheilkunde - 1 Aug 2000
Gösele S, Dithmar S, Holz F G, Völcker H E
Abstract excerpt
BACKGROUND: The Morquio syndrome is a rare autosomal-recessive mucopolysaccharidosis. The Morquio syndrome is characterized by a reduced activity of N-acetylgalactosamine-6-sulfate-sulfatase (type A), or beta-galactosidase (type B). This deficiency leads to a lysosomal storage disease with accumulation of keratan sulfate und chondroitin-6-sulfate in connective tissue, skeletal system und teeth. Consequently,...
Topics
- Adult
- Age Factors
- Cornea
- Corneal Diseases
- Diagnosis, Differential
- Dwarfism
- Female
- Genotype
- Humans
- Mucopolysaccharidosis IV
- Phenotype