title: Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies.
abstract: Observations have been made on two brothers who had progressive ataxia, intention myoclonus and visual failure starting early in the third decade of life. Their parents were consanguineous. The brothers showed bilateral cherry red spots at the maculae and bilateral perinuclear cataracts; their intelligence was preserved. Urine was found to contain large amounts of sialylated oligosaccharides; cultured skin fibroblasts showed deficiency of the enzyme sialidase (neuraminidase). Studies on leucocytes and cultured skin fibroblasts showed aberrant electrophoretic mobilities of six enzymes all of which are known to be glycoproteins, and this has been attributed to excessive amounts of sialic acid on the enzyme molecules. The clinical features together with the biochemical findings indicate that these are further cases of the newly described condition Sialidosis Type 1 and it is suggested that the electrophoretic findings might be typical of the condition.
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics; D004586:Electrophoresis; D006023:Glycoproteins / Q000032:analysis; D006801:Humans; D006867:Hydrolases / Q000032:analysis*; D008297:Male; D009207:Myoclonus / Q000201:enzymology* / Q000235:genetics / Q000652:urine; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D013577:Syndrome; D014786:Vision Disorders / Q000235:genetics
chemical_list: D006023:Glycoproteins; D009844:Oligosaccharides; D006867:Hydrolases; D009439:Neuraminidase