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- Title
Infantile sialic acid storage disease (ISSD): Report of the first case detected in Poland.
- Authors
Tylki-SzymáNska, Anna; Czartoryska, Barbara; Lugowska, Agnieszka; Verheijen, Frans W; Mancini, Grazia M S; Rokicki, Dariusz; Taybert, Joanna; ChmielíNska, Elzbieta
- Abstract
Free sialic acid storage disease (ISSD)is a rare, autosomal recessive lysosomal disorder caused by a lysosomal membrane defect that results in accumulation of free sialic acid within lysosomes. The disease represents two clinically distinct phenotypes: adult type of Salla disease presenting with progressive mental deterioration, ataxia, and normal life span (occurring with a significantly higher frequency in the Finnish population); and infantile sialic acid storage disease (ISSD), with early onset,severe psychomotor retardation, coarse face,hepatosplenomegaly, and early death. Both disorders are caused by different mutations in the same gene, which is located on chromosome 6.1 The mutation results in the impairment of an active proton-dependent and substrate, specific transport system of free sialic acid across the lysosomal membrane.
- Subjects
LYSOSOMAL storage diseases; SIALIC acids; INFANT diseases
- Publication
Pediatrics International, 2003, Vol 45, Issue 2, p199
- ISSN
1328-8067
- Publication type
Article
- DOI
10.1046/j.1442-200X.2003.01693.x