[Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]

Arch Fr Pediatr. 1981 Oct;38(8):603-4.
[Article in French]


Clinical, radiological and biochemical findings are described in a male newborn with type VII mucopolysaccharidosis (betaglucuronidase deficiency). A metabolic storage disease was likely at birth, because of morphological and radiological features and granulated cells in blood and bone marrow. A study of glycosaminoglycans has been performed in urine and various organs post mortem. Enzymatic deficiency was found in serum, leucocytes, skin fibroblasts, liver, spleen and kidneys. Low activities were present in both parents.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / diagnostic imaging
  • Glucuronidase / analysis
  • Glucuronidase / deficiency*
  • Glycosaminoglycans / urine
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mucopolysaccharidoses / diagnosis*
  • Mucopolysaccharidoses / genetics
  • Radiography


  • Glycosaminoglycans
  • Glucuronidase