TY - JOUR
T1 - Infantile form of sialic acid storage disorder
T2 - Clinical, ultrastructural, and biochemical studies in two siblings
AU - Tondeur, M.
AU - Libert, J.
AU - Vamos, E.
AU - Van Hoof, F.
AU - Thomas, G. H.
AU - Strecker, G.
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 1982/10
Y1 - 1982/10
N2 - 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.
AB - 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.
KW - Lysosomal storage disease
KW - Mucolipidosis
KW - Sialic acid
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U2 - 10.1007/BF00441499
DO - 10.1007/BF00441499
M3 - Article
C2 - 7151835
AN - SCOPUS:0020458986
SN - 0340-6199
VL - 139
SP - 142
EP - 147
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 2
ER -