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Sialic acid storage disorder

Free sialic acid storage disorders, SASD ... [Pg.338]

Cardo PP, Lombardo C, Gatti R (1985) A simple detection of sialic acid storage disorders by urinary free and total sialic acid determinations. Clin Chim Acta 150 129-135 Denny PC, Denny PA, Allerton SE (1983) Determination of sialic acid using 2-thiobarbituric acid in the absence of hazardous sodium arsenite. Clin Chim Acta 131 333-336... [Pg.348]

Sialic acid storage disorder Salla disease... [Pg.954]

Gahl WA, Schneider JA, Aula PP. Lysosomal transport disorders Cystinosis and sialic acid storage disorders, in The metabolic and molecular bases of inherited disease (eds. Scriver CR, Beaudet AL, Sly WS, Valle D.) 1995 7th edn, McGraw-Hill, New York, pp 3763-3797... [Pg.430]

S.1 Sialic acid storage disorder (infantile form) Sialin (specific transporter) 6ql4-ql5 604322 ( 269920) "... [Pg.434]

Fig. 22.3. Metabolism of free N-acetylneuraminic acid (= sialic acid) UDP-acetylglucos-amine 2-epimerase is inhibited by the activated sialic acid donor, CMP-N-acetylneur-aminic acid, which also provides N-acetylneuraminic acid for glycoconjugate synthesis. In sialuria (22.6) loss of feedback inhibition leads to overproduction of sialic acid. In sialic acid storage disorders (22.5.1 and 22.5.2) N-acetylneuraminic acid accumulates in the lysosomes due to a defect of a specific transporter (sialin)... Fig. 22.3. Metabolism of free N-acetylneuraminic acid (= sialic acid) UDP-acetylglucos-amine 2-epimerase is inhibited by the activated sialic acid donor, CMP-N-acetylneur-aminic acid, which also provides N-acetylneuraminic acid for glycoconjugate synthesis. In sialuria (22.6) loss of feedback inhibition leads to overproduction of sialic acid. In sialic acid storage disorders (22.5.1 and 22.5.2) N-acetylneuraminic acid accumulates in the lysosomes due to a defect of a specific transporter (sialin)...
SASD must be discriminated from other disorders of sialic acid storage [3] (1) sialidosis and galactosialidosis, defects respectively in lysosomal sialidase and both sialidase and /1-galactosidase. (OMIM 256550 and 256540) (2) nonlysosomal sialuria (OMIM 269921). [Pg.337]

Table 4.3.1 Disorders of sialic acid metabolism with storage of sialic acid, clinical, and biochemical discrimination. ISSD Infantile sialic acid storage disease, OGS oligosaccharide, SASD free sialic acid storage disease... Table 4.3.1 Disorders of sialic acid metabolism with storage of sialic acid, clinical, and biochemical discrimination. ISSD Infantile sialic acid storage disease, OGS oligosaccharide, SASD free sialic acid storage disease...
Lysosomal accumulation of free sialic acid occurs in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease [1096]. Salla disease is an autosomal recessive lysosomal storage disorder and was first observed in patients of Fiimish ancestry, but also occurs outside Finland. The clinical symptoms are a slow progressive psychomotor retardation, impaired speech, ataxia and a prolonged course. Sialic acid accumulates in the lysosomes due to a defective efflux into the cytosol. The genetic defect affects the function of the specific transport protein for sialic acid and other acidic monosaccharides in the lysosomal membrane [1097]. The Salla disease locus... [Pg.370]

R 588 E. M. Strehle, Sialic Acid Storage Disease and Related Disorders , Genet. Test., 2003,7,113... [Pg.44]

Sialin was first identified as the product of the gene defective in sialidosis, a lysosomal storage disorder. The transporter mediates the movement of sialic acid out of lysosomes by coupling to the proton electrochemical gradient across the lysosomal membrane. Unlike the vesicular neurotransmitter transporters which are antiporters, sialin is a sympoiter with sialic acid and protons both moving out of the lysosome. [Pg.1131]

See other pages where Sialic acid storage disorder is mentioned: [Pg.433]    [Pg.433]    [Pg.443]    [Pg.687]    [Pg.258]    [Pg.433]    [Pg.433]    [Pg.443]    [Pg.687]    [Pg.258]    [Pg.348]    [Pg.53]    [Pg.339]    [Pg.441]    [Pg.430]    [Pg.1580]    [Pg.1585]    [Pg.338]   
See also in sourсe #XX -- [ Pg.258 ]



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