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 language | English |
|---|---|
| Pages (from-to) | 195-205 |
| Number of pages | 11 |
| Journal | American Journal of Medical Genetics - Seminars in Medical Genetics |
| Volume | 1 |
| Issue number | 2 |
| State | Published - Dec 1 1977 |
| Externally published | Yes |
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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 journal › Article
}
TY - JOUR
T1 - Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity
T2 - mucopolysacchariodosis IVB.
AU - Arbisser, A. I.
AU - Donnelly, K. A.
AU - Scott, C. I.
AU - DiFerrante, N.
AU - Singh, J.
AU - Stevenson, R. E.
AU - Aylesworth, A. S.
AU - Howell, R.
PY - 1977/12/1
Y1 - 1977/12/1
N2 - 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).
AB - 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).
UR - http://www.scopus.com/inward/record.url?scp=0017729343&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017729343&partnerID=8YFLogxK
M3 - Article
C2 - 416714
AN - SCOPUS:0017729343
VL - 1
SP - 195
EP - 205
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4825
IS - 2
ER -