Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia

Am J Med Genet. 1992 Sep 15;44(2):145-52. doi: 10.1002/ajmg.1320440206.


We report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis. He had pectus carinatum, gross thoracic kyphoscoliosis, and hip dysplasia, a picture which became conspicuous after age 4 years. Hepatosplenomegaly, herniae, corneal clouding, and neurological abnormalities were absent. Although he had Alder-type granulations in his polymorphonuclear leukocytes, the urine did not contain a significant excess of mucopolysaccharides. Electron microscopic examination of skin and gingival biopsies, leukocytes, and cultured skin fibroblasts showed numerous single membrane-limited vacuoles either empty or filled with fibrillogranular material; this last tissue did not contain metachromatic granules. Radiographs demonstrated a distinct spondyloepiphyseal dysplasia in which the most striking changes were confined to the thoracic spine (flattening and collapse in T7, T8 and T10 vertebral bodies) and to the femoral capital epiphyses (irregularities and fragmentation). The activity of GUSB in the patient's serum, leukocytes, and fibroblasts was severely decreased; the GUSB activity in the serum and leukocytes from the parents and 2 asymptomatic sibs was subnormal. Immunoblot analysis showed very low levels of cross-reactive material towards anti-GUSB antiserum in the patient's leukocyte and fibroblast extracts. This patient was more severely affected in his skeleton than other described patients with an oligosymptomatic chronic form. This case broadens the clinical and biochemical picture associated with GUSB deficiency and may represent a new variant of the disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chronic Disease
  • Glucuronidase / deficiency
  • Hip Joint / diagnostic imaging
  • Humans
  • Leukocytes / enzymology
  • Leukocytes / ultrastructure
  • Male
  • Microscopy, Electron
  • Mucopolysaccharidosis VII / enzymology
  • Mucopolysaccharidosis VII / genetics
  • Mucopolysaccharidosis VII / pathology*
  • Osteochondrodysplasias / enzymology
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Pelvic Bones / diagnostic imaging
  • Radiography
  • Skin / enzymology
  • Skin / ultrastructure
  • Spine / diagnostic imaging


  • Glucuronidase