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.
References in periodicals archive ?
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(110) For an "insider's" view of the important role the ISSD can play, see Kishore Mahbubhani, "South by south text", Hindustan Times, 21 October 2008.
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(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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Idd al-Shargi South Dome (ISSD), on which Elf (now part of Total) had done tests with horizontal drilling, was given to Oxy in September 1997.
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