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Impaired sulphated glycosaminoglycan metabolism in a patient with GM‐2 gangliosidosis (Tay‐Sachs disease)
Author(s) -
Toma L.,
Pinto W.,
Rodrigues V. C.,
Dietrich C. P.,
Nader H. B.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799575
Subject(s) - glycosaminoglycan , urine , excretion , hunter syndrome , gangliosidosis , endocrinology , dermatan sulfate , medicine , urinary system , chemistry , biochemistry , heparan sulfate , enzyme
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.