Clinical and molecular analysis of a Japanese boy with Morquio B disease.

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Citation

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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Beta-galactosidaseP16278Details