Acid Mucopolysaccharide (AMPS) Abnormality in Multiple Sulfatase Deficiency: Chemical Compositions of AMPS in Urine and Liver View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1982-05

AUTHORS

Yoshikatsu Eto, Toshiharu Tokoro, Teruo Handa, Norbert N Herschkowitz, Owen M Rennert

ABSTRACT

Extensive chemical analyses of acid mucopolysaccharides (AMPS) were carried out in the urine and tissue (liver and brain) from a Japanese patient and two European patients with multiple sulfatase deficiency (MSD). The Japanese patient with MSD contained excessive quantities of heparan sulfate and moderately increased chondroitin sulfate A/C. Urinary excretion of AMPS in MSD heterozygotes was increased 2-fold compared to our controls. The urinary pattern of AMPS in the mother of the MSD patient showed an increase of 18% heparan sulfate and 36% dermatan sulfate whereas the urinary excretion pattern in the father was increased 21% for heparan sulfate as contrasted to controls (chondroitin sulfate A, 50-52%; chondroitin sulfate C, 38-46%; and heparan sulfate, 3-10%). Seventy-five % of the AMPS and the MSD liver was heparan sulfate rather than dermatan sulfate. The degree of accumulation of AMPS in the MSD liver was 30-50 times that of the control. Cerebral gray matter from the MSD patient contained 30-40 times that of control (relative increase of heparan and dermatan sulfate) whereas only a 5-fold increase was observed in white matter. It seems that a major site of accumulated AMPS appears to be in the gray matter. Carbohydrate analysis of the AMPS obtained from MSD urine and tissues was performed by: enzyme digestion with testicular hyaluronidase, heparitinase and chondroitinase ABC, cellulose acetate electrophoresis, Dowex-1 column chromatography and amino sugar analysis by amino acid analyzer. These findings indicate that the major accumulated AMPS in MSD urine and liver is heparan sulfate and thus, the predominant AMPS metabolic defect in MSD is heparan sulfate degradation. More... »

PAGES

395

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198205000-00015

DOI

http://dx.doi.org/10.1203/00006450-198205000-00015

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052654302

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6212904


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