Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings

M. Tondeur, J. Libert, E. Vamos, F. Van Hoof, G. H. Thomas, G. Strecker

Research output: Contribution to journalArticlepeer-review

Abstract

We describe two sibs with coarse facies, hepatosplenomegaly, prominent psychomotor retardation and unexpectedly fair complexion. Ultrastructural studies of conjunctival, skin, bone marrow and liver biopsies from these individuals showed generalized lysosomal storage of polysaccharidelike material, i.e., membrane bound inclusions containing sparse, fibrillo-granular material. Biochemical analyses of urine and cultured fibroblasts from these patients revealed increased levels of free (unbound) sialic acid. The ultrastructural and biochemical findings in these sibs are similar to those previously found in Salla disease, however, the clinical course is much more severe. It is concluded that these children represent a new pathogenetic entity whose basic defect is still to be defined.

Original languageEnglish (US)
Pages (from-to)142-147
Number of pages6
JournalEuropean Journal of Pediatrics
Volume139
Issue number2
DOIs
StatePublished - Oct 1982

Keywords

  • Lysosomal storage disease
  • Mucolipidosis
  • Sialic acid

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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