Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation

Feline and human mucopolysaccharidosis VI (MPS VI or Maroteaux–Lamy syndrome) are inherited autosomal recessive deficiencies of lysosomal enzyme arylsulphatase B 1–6 . Affected cats and children exhibit lesions caused by incompetent degradation, retinal atrophy and excessive urinary excretion of der...

Full description

Saved in:
Bibliographic Details
Published in:Nature (London) 1984-11, Vol.312 (5993), p.467-469
Main Authors: Gasper, P. W., Thrall, M. A., Wenger, D. A., Macy, D. W., Ham, L., Dornsife, R. E., McBiles, K., Quackenbush, S. L., Kesel, M. L., Gillette, E. L., Hoover, E. A.
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Bone Marrow Transplantation
Cat Diseases - therapy
Cats
Chondro-4-Sulfatase - blood
Chondro-4-Sulfatase - deficiency
Errors of metabolism
Glycosaminoglycans - urine
Humanities and Social Sciences
Immunosuppression
letter
Leukocytes - enzymology
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Metabolic diseases
Mucopolysaccharidoses - veterinary
Mucopolysaccharidosis VI - therapy
Mucopolysaccharidosis VI - veterinary
multidisciplinary
Particle Accelerators
Science
Science (multidisciplinary)
Sulfatases - deficiency
Whole-Body Irradiation
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Feline and human mucopolysaccharidosis VI (MPS VI or Maroteaux–Lamy syndrome) are inherited autosomal recessive deficiencies of lysosomal enzyme arylsulphatase B 1–6 . Affected cats and children exhibit lesions caused by incompetent degradation, retinal atrophy and excessive urinary excretion of dermatan facial dysmorphia, corneal stromal opacities, leukocyte granulation, retinal atrophy and excessive urinary excretion of dermatan sulphate—and usually die before adulthood 7–11 . Most attempts to treat humans affected with MPS VI or other mucopolysaccharidoses have been ineffective or logistically prohibitive 12–21 , but allogeneic bone marrow transplantation (BMT) offers promise for cure of certain inborn errors of metabolism 22–24 . Engraftment of normal donor marrow may endow the enzyme-deficient recipient with a continuous source of enzyme-competent blood cells and tissue macrophages to facilitate degradation of stored substrate and to prevent genesis of further malformations. To test this hypothesis, we performed allogeneic BMT in a 2-year-old male Siamese cat with advanced MPS VI. Here we describe BMT-induced correction of this hereditary enzyme deficiency.
ISSN:0028-0836
1476-4687
DOI:10.1038/312467a0