[Biochemical diagnosis of sialidosis in a child with a "cherry spot" in the fundus oculi as the main clinical symptom of the disease].
Biochemical study of a 6 years old child with decreased visus and cherry red spot but without any somatic and mental abnormalities was carried out. Leukocyte lysosomal hydrolases exhibited a distinct deficiency of neuraminidase activity in the child and a decrease of the enzyme activity in the parents of the child. The neuraminidase activity in leukocytes of mother and father constituted 37% and 53% of the control values, respectively; these data enabled to consider the parents as heterozygotes. Excretion of total sialylolygosaccharides with urine was increased 4-5-fold in the patient as compared with suitable controls. It was concluded that the patient studied was affected by sialidosis of the type I.
D000328:Adult; D002648:Child; D004796:Clinical Enzyme Tests; D005260:Female; D005654:Fundus Oculi; D006596:Hexosaminidases / Q000097:blood / Q000172:deficiency; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D009439:Neuraminidase / Q000097:blood / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D001616:beta-Galactosidase / Q000097:blood / Q000172:deficiency; D001619:beta-N-Acetylhexosaminidases
D009844:Oligosaccharides; C016735:sialooligosaccharides; D006596:Hexosaminidases; D009439:Neuraminidase; D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases
Biokhimicheskoe vyiavlenie sialidoza u rebenka s "vishnevoĭ" na glaznom dne v kachestve osnovnogo klinicheskogo simptoma bolezni.