Glycoconjugate Journal

, Volume 22, Issue 7–9, pp 395–400 | Cite as

Serum hyaluronidase aberrations in metabolic and morphogenetic disorders

  • Berta Fiszer-Szafarz
  • Barbara Czartoryska
  • Anna Tylki-Szymanska


Hyaluronidases are endo-glycosidases that degrade both hyaluronan (hyaluronic acid) (HA) and chondroitin sulfates. Deficiency of hyaluronidase activity has been predicted to result in a phenotype similar to that observed in mucopolysaccharidosis (MPS). In the present study, we surveyed a variety of patients with phenotypes similar to those observed in MPS, but without significant mucopolysacchariduria to determine if some are based on aberrations in serum hyaluronidase (Hyal-1) activity. The study included patients with well-characterized dysmorphic disorders occurring on genetic basis, as well as those of unkown etiology. The purpose of the study was to establish how wide spread were abnormalities in levels of circulating Hyal-1 activity. A simple and sensitive semi-quantitative zymographic procedure was used for the determination of activity. Levels of both ß -N-acetylglucosaminidase and ß -glucuronidase whose activities contribute to the total breakdown of hyaluronan (HA) were also measured, as well as the concentration of circulating HA. Among 48 patients with bone or connective tissue abnormalities, low levels of Hyal-1 activity were found in six patients compared to levels in 100 healthy donors (2.0–3.2 units/μL vs 6(± 1 SE) units/μL). These six patients exhibited a wide spectrum of clinical abnormalities, in particular shortened extremities: they included three patients with unknown causes of clinical symptoms, one patient with Sanfilippo disease, one of the seven patients with achondroplasia, and one with hypophosphotemic rickets. Normal levels of serum Hyal-1 activities were found in patients with Morquio disease, GM1 gangliosidosis, I cell-disease, 6 of the 7 patients with achondroplasia, Marfan's-syndrome and Ehlers-Danlos syndrome. No patient totally lacked serum Hyal-1 activity. Serum HA concentration was elevated in patients with Sanfilippo A and I-cell disease. Determination of serum and leukocyte Hyal-1 and serum HA may be useful to evaluate patients with metabolic and morphogenetic disorders.


human serum hyaluronidase leukocyte hyaluronidase serum hyaluronan dysostosis-multiplex Sanfilippo-A disease achondroplasia hypophosphotemic rickets I-cell disease 


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Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Berta Fiszer-Szafarz
    • 1
  • Barbara Czartoryska
    • 1
    • 2
  • Anna Tylki-Szymanska
    • 3
  1. 1.Institut Curie-BiologieCentre UniversitaireOrsayFrance
  2. 2.Department of GeneticsInstitute of Psychiatry and NeurologyWarsawPoland
  3. 3.Department of Metabolic DiseasesChildren's Memorial Health InstituteWarsawPoland

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