Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid

  title={Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid},
  author={Ehud Goldin and Yuko Imai and Christine R. Kaneski and Peter G. Pentchev and Roscoe O. Brady and Vincent C. Hascall},
  journal={Journal of Inherited Metabolic Disease},
Mucolipidosis IV (ML IV) (McKusick 252650) is an autosomal recessive metabolic disorder that displays signs of both lipid and mucopolysaccharide (glycosaminoglycan) storage. It has been reported that fibroblasts from ML IV patients exhibit abnormally high synthesis of hyaluronic acid in culture. In our search for a biochemical marker that will enable positive identification of ML IV, we studied glycosaminoglycan synthesis in fibroblast cultures from patients with this disease. ML IV and normal… CONTINUE READING


Publications referenced by this paper.
Showing 1-10 of 16 references

Ganglioside sialidase deficiency (mucolipidosis IV)

JS O'Brien
The Metabolic Basis of Inherited Disease, • 1989
View 1 Excerpt

Complex carbohydrates, Part F

M Ziegler, G Bach
Clin Chim Acta • 1986

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