infantile sialic acid storage disease
infantile sialic acid storage diseaseA rare lysosomal storage disease (OMIM:269920) characterised by accumulation of sialic acid in tissue and free sialic acid that is excreted in the urine.
Severe developmental delay, hypotonia, failure to thrive, coarse facies, seizures, bone malformations, hepatosplenomegaly, cardiomegaly, death by age 2.
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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