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European Journal of Pediatrics

, Volume 132, Issue 3, pp 207–211 | Cite as

Urinary acid mucopolysaccharides in Multiple Sulfatase Deficiency (Mucosulfatidosis)

  • Yoshikatsu Eto
  • Shunsuke Numaguchi
  • Teruo Handa
Case Report

Abstract

Urinary acid mucopolysaccharide (AMPS) excretion was investigated in a Japanese case with Multiple Sulfatase Deficiency (MSD) (Mucosulfatidosis). The patient excreted AMPS 4 to 5 times more (as carbazoluronic acid) than controls. The cellulose acetate gel electrophoresis clearly indicated two major AMPS which co-migrated with heparan sulfate and chondroitin sulfate A/C. Enzymic digestion with chondroitinase AC and ABC, and by testicular hyaluronidase plus amino sugar analysis also confirmed that our case excreted heparan sulfate and chondroitin sulfate A/C. These findings suggest that there are heterogeneities of urinary AMPS excretion among cases with MSD.

Key words

Metachromatic leukodystrophy Multiple sulfatase deficiencies Urinary acid mucopolysaccharide Heparan sulfate Chondroitin sulfate A/C 

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References

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Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • Yoshikatsu Eto
    • 1
  • Shunsuke Numaguchi
    • 1
    • 2
  • Teruo Handa
    • 1
    • 2
  1. 1.Department of PediatricsTokyo Jikei University School of MedicineTokyoJapan
  2. 2.Department of PediatricsHigashisaitama National Sanatorium HospitalSaitamaJapan

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