Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.
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).
D000293:Adolescent; D005260:Female; D005688:Galactosamine / Q000378:metabolism; D014644:Genetic Variation; D006801:Humans; D007787:Lactose Intolerance; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D011859:Radiography; D012867:Skin / Q000201:enzymology; D013429:Sulfatases / Q000378:metabolism*
D005688:Galactosamine; D013429:Sulfatases