A Dutch child with psychomotor retardation, impaired speech, ataxia, sialic acid storage and vacuolized skin fibroblasts and lymphocytes was diagnosed as having free sialic acid storage disease. Slight corneal opacities, pale optic disks at the fundus oculi and vertebral abnormalities, not earlier reported in Salla disease, were peculiar to this case. Free sialic acid was about tenfold increased in urine and cultured fibroblasts, without changes in the glycoconjugate-bound sialic acid pool. A subsequent pregnancy of the patient's mother was monitored by assay of sialic acid in chorionic villi and amniotic fluid. An unaffected foetus was predicted. Sialic acid was also assayed in peripheral blood total leucoyctes, and in mononuclear and polymorphonuclear (PMN) leucocyte subpopulations. Each of these leucocyte fractions from the patient showed 10- to 30-fold increase in sialic acid content. The PMN subpopulation provided the most restricted range of control values and showed slightly increased values for the patient's parents. These results suggest that the assay of sialic acid in PMN might be useful for the identification of heterozygotes in sialic acid storage disease. Studies on a larger number of obligate heterozygotes are needed to confirm this observation.

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doi.org/10.1007/BF01957729, hdl.handle.net/1765/65490
European Journal of Pediatrics
Department of Clinical Genetics

Mancini, G., Hu, P., Verheijen, F., van Diggelen, O., Janse, H., Kleijer, W., … Jennekens, F. G. (1992). Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. European Journal of Pediatrics, 151(8), 590–595. doi:10.1007/BF01957729