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. R.
PY - 1977
Y1 - 1977
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).
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U2 - 10.1002/ajmg.1320010205
DO - 10.1002/ajmg.1320010205
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 -