Journal of Inherited Metabolic Disease

, Volume 13, Issue 5, pp 721–731 | Cite as

Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease)

  • L. Toma
  • W. Pinto
  • V. C. Rodrigues
  • C. P. Dietrich
  • H. B. Nader
Article
Received:
Accepted:

Summary

An abnormal urinary excretion of sulphated glycosaminoglycans in a patient with GM-2 gangliosidosis (Tay-Sachs disease) is described. Besides the accumulation of GM-2 ganglioside in liver and lack of hexosaminidase A, the patient shows an abnormal urinary excretion of an iduronic acid-rich low molecular weight heparan sulphate. Also, no dermatan sulphate could be detected in the urine, whereas this compound was the main sulphated glycosaminoglycan in the liver of the patient. Heparan sulphate was the main glycosaminoglycan of normal liver. The total amount of sulphated glycosaminoglycans in the urine and liver of the patient did not differ significantly from the amounts found in the liver and urine of normal subjects. Several plasma glycosidases have been assayed and the activities did not differ significantly from the values obtained for the plasma of normal subjects.

Keywords

Public Health Sulphated Molecular Weight Internal Medicine Metabolic Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© SSIEM and Kluwer Academic Publishers 1990

Authors and Affiliations

  • L. Toma
    • 1
  • W. Pinto
    • 2
  • V. C. Rodrigues
    • 3
  • C. P. Dietrich
  • H. B. Nader
    • 1
  1. 1.Departmento de BioquímicaEscola Paulista de MedicinaSão Paulo, S.P.
  2. 2.Departamento de GenéticaUniversidade de CampinasCampinas S.P.
  3. 3.Departmento de GenéticaUniversidade Julio de Mesquita FilhoAraraquara S.P.Brazil

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