Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.

A. I. Arbisser, K. A. Donnelly, C. I. Scott, N. DiFerrante, J. Singh, R. E. Stevenson, A. S. Aylesworth, R. R. Howell

Research output: Contribution to journalArticle

53 Scopus citations

Abstract

A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).

Original languageEnglish (US)
Pages (from-to)195-205
Number of pages11
JournalAmerican journal of medical genetics
Volume1
Issue number2
DOIs
StatePublished - 1977
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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