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Urinary acid mucopolysaccharides in Multiple Sulfatase Deficiency (Mucosulfatidosis)

✍ Scribed by Yoshikatsu Eto; Shunsuke Numaguchi; Teruo Handa

Book ID
104775848
Publisher
Springer
Year
1979
Tongue
English
Weight
278 KB
Volume
132
Category
Article
ISSN
0340-6997

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✦ Synopsis

Urinary acid mucopolysaccharides (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.

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Molecular and functional analysis of SUM
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
✍ Maria Pia Cosma; Stefano Pepe; Giancarlo Parenti; Carmine Settembre; Ida Annunzi πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 233 KB

## Communicated by Peter Byers Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases