期刊
MOLECULAR GENETICS AND METABOLISM
卷 82, 期 2, 页码 137-143出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2004.03.001
关键词
sialic acid; N-acetylneuraminic acid; lysosomal storage; infantile free sialic acid storage disease; ISSD; Salla disease
资金
- NIDDK NIH HHS [DK38795] Funding Source: Medline
The allelic autosomal recessive lysosomal storage disorders Salla disease and infantile free sialic acid storage disease (ISSD) result from mutations in SLC17A5. This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetyl-neuraminic acid (sialic acid), Out Of lysosomes. ISSD has a severe phenotype with infantile onset, while the Finnish variant, Salla disease, has a milder phenotype with later onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. We describe a 30-month old non-Finnish, Caucasian child with global developmental delay of postnatal onset, language, and motor skills stagnant at a 3-4 month level, hypotonia, and mild but progressive coarsening of facial features. Urinary excretion of free sialic acid was elevated 4.5 times above control. EM of a skin biopsy revealed enlarged secondary lysosornes consistent with oligosaccharide storage. Free sialic acid in fibroblasts was 3.8 +/- 0.9 nmol/rng protein (concurrent normal controls, 0.5 +/- 0.1); differential centrifugation indicated a lysosomal location. Genomic analysis revealed compound heterozygosity for two new SLC17A5 mutations. This child's clinical manifestations of a lysosomal free sialic acid storage disease are consistent with her sialin mutations and biochemical findings. The differential diagnosis of postnatal developmental delay should include free sialic acid storage disorders such as ISSD and Salla disease. Published by Elsevier Inc.
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