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Galactosialidosis (β‐Galactosidase ‐ Neuraminidase Deficiency): A New Hereditary Metabolic Disease with Abnormal Degradation of Enzyme Molecules
Author(s) -
Suzuki Yoshiyuki,
Sakuraba Hitoshi,
Yamanaka Tatsuhiro,
Ko YouMin,
Okamura Yuko
Publication year - 1983
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1983.tb00583.x
Subject(s) - medicine , angiokeratoma , neuraminidase , fabry disease , lysosomal storage disease , cerebellar ataxia , ataxia , enzyme , disease , biochemistry , immunology , pathology , biology , virus , psychiatry
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.