Combined sialidase (neuraminidase) and β-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient
Article first published online: 23 APR 2008
Volume 26, Issue 2, pages 139–149, August 1984
How to Cite
Loonen, M. C. B., Reuser, A. J. J., Visser, P. and Arts, W. F. M. (1984), Combined sialidase (neuraminidase) and β-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient. Clinical Genetics, 26: 139–149. doi: 10.1111/j.1399-0004.1984.tb00804.x
- Issue published online: 23 APR 2008
- Article first published online: 23 APR 2008
- Received 2 December 1983, revised, accepted for publication 13 March 1984
- lysomal storage disease;
A patient with combined deficiency of sialidase and β-galactosidase is described. This now 39-year-old man, who is of Japanese origin, showed gradually progressive clinical features from the age of six years. Many of these features are commonly found in sialidosis type 2 or in GM1-gangliosidosis. Both sialidase and β-galactosidase activities were deficient in leucocytes and cultured fibroblasts. Leucocytes of his mother showed activities of both enzymes in the lower limit of the control range.
Morphologically, the pattern of storage products in a skin biopsy resembled in many respects that seen in GM1-gangliosidosis. Moreover, storage products which could be typical of sialidosis were also observed. Since the patient showed angiokeratomata, the morphological findings were compared with those specific to Fabry's disease, but no similarities were found.
An enzymological diagnosis of the disease is most reliable on cultured fibroblasts, discriminating it from sialidosis type 2 and GM1-gangliosidosis. In view of recent findings, leucocytes seem to be less suitable for the establishment of the diagnosis galactosialidosis.