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. Howell

Research output: Contribution to journalArticle

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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
Pages (from-to)195-205
Number of pages11
JournalAmerican Journal of Medical Genetics - Seminars in Medical Genetics
Volume1
Issue number2
StatePublished - Dec 1 1977
Externally publishedYes

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Mucopolysaccharidosis IV
GM1 Gangliosidosis
Sulfatases
Hexosamines
N-acetylglucosamine-6-sulfatase
Dysostoses
Keratan Sulfate
Lysosomal Storage Diseases
Nervous System Malformations
Galactosamine
beta-Galactosidase
Vacuoles
Cornea
Sulfates
Central Nervous System
Fibroblasts
Biopsy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity : mucopolysacchariodosis IVB. / Arbisser, A. I.; Donnelly, K. A.; Scott, C. I.; DiFerrante, N.; Singh, J.; Stevenson, R. E.; Aylesworth, A. S.; Howell, R.

In: American Journal of Medical Genetics - Seminars in Medical Genetics, Vol. 1, No. 2, 01.12.1977, p. 195-205.

Research output: Contribution to journalArticle

Arbisser, A. I. ; Donnelly, K. A. ; Scott, C. I. ; DiFerrante, N. ; Singh, J. ; Stevenson, R. E. ; Aylesworth, A. S. ; Howell, R. / Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity : mucopolysacchariodosis IVB. In: American Journal of Medical Genetics - Seminars in Medical Genetics. 1977 ; Vol. 1, No. 2. pp. 195-205.
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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).",
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AU - DiFerrante, N.

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AU - Stevenson, R. E.

AU - Aylesworth, A. S.

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