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. 1991 Jul;28(7):499–501. doi: 10.1136/jmg.28.7.499

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

T Tønnesen 1, H N Gregersen 1, F Güttler 1
PMCID: PMC1016967  PMID: 1832719

Abstract

A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.

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Selected References

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  1. Hopwood J. J., Muller V., Harrison J. R., Carey W. F., Elliott H., Robertson E. F., Pollard A. C. Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period. Med J Aust. 1982 Mar 20;1(6):257–260. [PubMed] [Google Scholar]
  2. MAROTEAUX P., LEVEQUE B., MARIE J., LAMY M. UNE NOUVELLE DYSOSTOSE AVEC 'ELIMINATION URINAIRE DE CHONDROITINE-SULFATE B. Presse Med. 1963 Sep 25;71:1849–1852. [PubMed] [Google Scholar]
  3. Matalon R., Arbogast B., Dorfman A. Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome. Biochem Biophys Res Commun. 1974 Dec 23;61(4):1450–1457. doi: 10.1016/s0006-291x(74)80446-8. [DOI] [PubMed] [Google Scholar]
  4. Nielsen J. B., Güttler F., Hobolth N., Tønnesen T., Pedersen O. D., Lykkelund C., Rosleff F. Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and alpha 1-antitrypsin deficiency. Eur J Pediatr. 1986 Dec;145(6):572–575. doi: 10.1007/BF02429071. [DOI] [PubMed] [Google Scholar]
  5. O'Brien J. F., Cantz M., Spranger J. Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase. Biochem Biophys Res Commun. 1974 Oct 8;60(3):1170–1177. doi: 10.1016/0006-291x(74)90435-5. [DOI] [PubMed] [Google Scholar]
  6. Stumpf D. A., Austin J. H., Crocker A. C., LaFrance M. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues. Am J Dis Child. 1973 Dec;126(6):747–755. doi: 10.1001/archpedi.1973.02110190597003. [DOI] [PubMed] [Google Scholar]
  7. Taylor H. R., Hollows F. C., Hopwood J. J., Robertson E. F. Report of a mucopolysaccharidosis occurring in Australian aborigines. J Med Genet. 1978 Dec;15(6):455–461. doi: 10.1136/jmg.15.6.455. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Vestermark S., Tønnesen T., Andersen M. S., Güttler F. Mental retardation in a patient with Maroteaux-Lamy. Clin Genet. 1987 Feb;31(2):114–117. doi: 10.1111/j.1399-0004.1987.tb02779.x. [DOI] [PubMed] [Google Scholar]

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