ABSTRACT
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.
Subject(s)
Glycosaminoglycans/metabolism , Tay-Sachs Disease/metabolism , Dermatan Sulfate/urine , Electrophoresis, Agar Gel , Electrophoresis, Polyacrylamide Gel , Gangliosides/blood , Glycosaminoglycans/urine , Glycoside Hydrolases/blood , Glycoside Hydrolases/metabolism , Heparin, Low-Molecular-Weight/urine , Hexosaminidase A , Humans , Infant , Infant, Newborn , Leukocytes/enzymology , Liver/enzymology , Liver/pathology , Liver/ultrastructure , Male , Microscopy, Electron , Molecular Weight , Tay-Sachs Disease/pathology , Tay-Sachs Disease/urine , beta-N-Acetylhexosaminidases/deficiencySubject(s)
Metabolism, Inborn Errors/urine , Oligosaccharides/urine , Aspartylglucosaminuria , Carbohydrate Metabolism, Inborn Errors/urine , Chromatography, Thin Layer , Fucose/metabolism , Glycogen Storage Disease/urine , Humans , Mannose/metabolism , Marfan Syndrome/urine , Mass Screening/methods , Mucolipidoses/metabolism , Osteogenesis Imperfecta/urine , Sandhoff Disease/urine , Tay-Sachs Disease/urineABSTRACT
Simple methods for the detection of keratan sulphate in urine have been applied to over 300 urine samples collected from children and adults with bone and cartilage dysplasias with or without mental retardation. Abnormal keratan sulphate excretion, which is a feature of type IV mucopolysaccharidosis (Morquio syndrome), is found in patients with that condition only during childhood. Abnormal excretion is also a feature of Kniest dysplasia and GM1 gangliosidosis and may be present in a number of other bone and cartilage dysplasias of unknown aetiology.
