infantile sialic acid storage disease

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infantile sialic acid storage disease

A rare lysosomal storage disease (OMIM:269920) characterised by accumulation of sialic acid in tissue and free sialic acid that is excreted in the urine.

Clinical findings
Severe developmental delay, hypotonia, failure to thrive, coarse facies, seizures, bone malformations, hepatosplenomegaly, cardiomegaly, death by age 2.

Molecular pathology
Caused by defects of SLC17A5, which encodes a solute transporter for anions, in particular, that of free sialic acid transport to lysosomes.
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