Clinical and molecular analysis of a Japanese boy with Morquio B disease.
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Ishii N, Oohira T, Oshima A, Sakuraba H, Endo F, Matsuda I, Sukegawa K, Orii T, Suzuki Y
Clinical and molecular analysis of a Japanese boy with Morquio B disease.
Clin Genet. 1995 Aug;48(2):103-8.
- PubMed ID
- 7586649 [ View in PubMed]
- Abstract
Morquio B disease was found in a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurological manifestations. Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts. Gene analysis revealed two mutant alleles, 83Tyr-->His (Y83H) and 482Arg-->Cys (R482C). The former expressed a low enzyme activity (2-5% of normal), and the latter expressed no detectable enzyme activity.