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

• DOI: 10.1111/j.1399-0004.1995.tb04065.x
• Publication Date: 2010-07-19T08:30:23Z
• Authors: Nozomi Ishii; Takahiko Oohira; Akihiro Oshima; Hitoshi Sakuraba; Fumio Endo; Ichiro Matsuda; Kazuko Sukegawa; Tadao Orii; Yoshiyuki Suzuki
• Keywords: Male; 0303 health sciences; Adolescent; Base Sequence; Molecular Sequence Data; Mucopolysaccharidosis IV; beta-Galactosidase; Polymerase Chain Reaction; Bone and Bones; 3. Good health; Radiography; 03 medical and health sciences; Japan; Mutation; Humans

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 found, and β‐galactosidase deficient fibroblasts. Gene analysis revealed two mutant alleles, 83 Tyr→ His (Y83H) 482 Arg→Cys (R482C). The former expressed low enzyme activity (2–5% of normal), the latter no detectable activity.