Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.
Two sisters and one brother, all with normal intelligence and no evidence of neurological abnormality, present progressive spondyloepiphyseal dysplasia, stunted growth, corneal opacities, and increased keratansulfaturia. Cultured skin fibroblasts from one of the children showed a remarkable deficiency of acid beta-galactosidase in association with normal activities of N-acetylgalactosamine-6-sulfate sulfatase and sialidase. Acid beta-galactosidase was also deficient in leukocytes of two children. Leukocytes of the parents exhibited intermediate activities, which suggests the primary nature of beta-galactosidase deficiency. Patients with MPS IV-B may be severely affected.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005690:Galactose / Q000652:urine; D005966:Glucuronidase / Q000097:blood; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007787:Lactose Intolerance / Q000235:genetics* / Q000473:pathology / Q000652:urine; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000235:genetics* / Q000473:pathology / Q000652:urine; D009439:Neuraminidase / Q000097:blood; D009844:Oligosaccharides / Q000652:urine; D001616:beta-Galactosidase / Q000097:blood
D006025:Glycosaminoglycans; D009844:Oligosaccharides; D009439:Neuraminidase; D001616:beta-Galactosidase; D005966:Glucuronidase; D005690:Galactose