Galactosialidosis (β‐Galactosidase ‐ Neuraminidase Deficiency): A New Hereditary Metabolic Disease with Abnormal Degradation of Enzyme Molecules
- 1 March 1983
- journal article
- Published by Wiley in Pediatrics International
- Vol. 25 (1) , 31-37
- https://doi.org/10.1111/j.1442-200x.1983.tb00583.x
Abstract
Galactosialidosis is a recently established heredodegenerative disease occurring in adults, characterized by cerebellar ataxia, myoclonus, cherry‐red spots, angiokeratoma and deficiencies of two lysosomal enzymes, β‐galactosidase and neuraminidase. Results of recent investigations are briefly reviewed and the molecular basis of this new disease is discussed.Keywords
This publication has 19 references indexed in Scilit:
- β‐Galactosidase–neuraminidase deficiency (galactosialidosis): Clinical, pathological, and enzymatic studies in a postmortem caseAnnals of Neurology, 1983
- Correction of combined β-galactosidase/neuraminidase deficiency in human fibroblastsBiochemical and Biophysical Research Communications, 1981
- Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological featuresAnnals of Neurology, 1981
- Adult type GMl-gangliosidosis: A complementation study on somatic cell hybridsBrain & Development, 1979
- AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.Proceedings of the National Academy of Sciences, 1978
- Hypersialyloligosacchariduria in mucolipidoses: A method for diagnosisClinica Chimica Acta; International Journal of Clinical Chemistry, 1978
- The cherry‐red spot‐myoclonus syndromeAnnals of Neurology, 1978
- Structure of Nine Sialyl-Oligosaccharides Accumulated in Urine of Eleven Patients with Three Different Types of Sialidosis. Mucolipidosis II and Two New Types of MucolipidosisEuropean Journal of Biochemistry, 1977
- Macular Cherry-Red Spots and β-Galactosidase Deficiency in an AdultArchives of Neurology, 1977
- ?-Galactosidase deficiency in juvenile and adult patientsHuman Genetics, 1977