Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease).
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.
Toma
L
L
Departamento de Bioquímica, Escola Paulista de Medicina, São Paulo, Brazil.
Pinto
W
W
Rodrigues
V C
VC
Dietrich
C P
CP
Nader
H B
HB
D003871:Dermatan Sulfate / Q000652:urine; D004587:Electrophoresis, Agar Gel; D004591:Electrophoresis, Polyacrylamide Gel; D005732:Gangliosides / Q000097:blood; D006025:Glycosaminoglycans / Q000378:metabolism* / Q000652:urine; D006026:Glycoside Hydrolases / Q000097:blood / Q000378:metabolism; D006495:Heparin, Low-Molecular-Weight / Q000652:urine; D054818:Hexosaminidase A; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008970:Molecular Weight; D013661:Tay-Sachs Disease / Q000378:metabolism* / Q000473:pathology / Q000652:urine; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency
D005732:Gangliosides; D006025:Glycosaminoglycans; D006495:Heparin, Low-Molecular-Weight; D003871:Dermatan Sulfate; D006026:Glycoside Hydrolases; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases