VOPROSY MEDITSINSKOI KHIMII (ISSN 0042-8809)

Biochemical diagnosis of sialidosis in a child with a 'cherry spot' in the fundus oculi as the main clinical symptom of the disease

   
Tsvetkova I.V., Petushkova N.A., Rozenfel'd E.L., Barashnev Iu.I., Semiachkina A.N.
PubMed Id: 6241373
Year: 1984  Volume: 30  Issue: 5  Pages: 81-83
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.
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Tsvetkova, I. V., Petushkova, N. A., Rozenfel'd, E. L., Barashnev, Iu. I., Semiachkina, A. N. (1984). Biochemical diagnosis of sialidosis in a child with a 'cherry spot' in the fundus oculi as the main clinical symptom of the disease. Voprosy meditsinskoi khimii, 30(5), 81-83.
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