infantile sialic acid storage disease

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.
References in periodicals archive ?
Sialic acid accumulated in the cell is stored as free sialic acid as observed in Salla disease and infantile sialic acid storage disease or accumulates as bound to other glycopeptides or oligosaccharides as observed in sialidosis.
Sialic acid storage diseases (SSDs) (3) are autosomal recessive neurodegenerative disorders that may present as a severe infantile form, infantile sialic acid storage disease (ISSD), or as a slowly progressive adult form that is prevalent in the Finnish population, called Salla disease (1).
(3) Nonstandard abbreviations: SSD, sialic acid storage disease; ISSD, infantile sialic acid storage disease; NANA, N-acetylneuraminic acid (free sialic acid); HPAE-PAD, high-performance anion-exchange pulsed amperometric detection; tMS, tandem mass spectrometry; KDN, 2-keto-3-deoxy-D-glycero-D-galactonononic acid; IS, internal standard; ESI, electrospray ionization; MRM, multiple reaction monitoring; ERNDIM, European Research Network for Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Disorders of Metabolism; and LOD, limit(s) of detection.

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