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Infantile Sialinsäurespeicherkrankheit

Infantile Sialinsäurespeicherkrankheit (ISSD) ist eine neurodegenerative Erkrankung als Folge einer vermehrten lysosomalen Speicherung von Sialinsäure. Der klinische Verlauf ist charakterisiert durch eine schwere Entwicklungsstörung, grobe Gesichtszüge, Hepatosplenomegalie und Kariomegalie. Der Tod tritt meist in der frühen Kindheit ein.

Gliederung

Glycolipidose
Infantile Sialinsäurespeicherkrankheit
SLC17A5
Inkludionskörpermyopathie 2
Nonaka-Myopathie
Salla Erkrankung
Sialurie

Referenzen:

1.

Lemyre E et al. (1999) Clinical spectrum of infantile free sialic acid storage disease.

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2.

Havelaar AC et al. (1998) Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.

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3.

Leppänen P et al. (1996) A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.

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4.

Haataja L et al. (1994) The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

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5.

Berra B et al. (1995) Infantile sialic acid storage disease: biochemical studies.

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6.

Schleutker J et al. (1995) Lysosomal free sialic acid storage disorders with different phenotypic presentationsinfantile-form sialic acid storage disease and Salla diseaserepresent allelic disorders on 6q14-15.

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7.

Schleutker J et al. (1995) Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.

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8.

Tondeur M et al. (1982) Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.

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9.

Hancock LW et al. (1982) Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

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10.

Stevenson RE et al. (1983) Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

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11.

Thomas GH et al. (1983) Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.

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12.

Hancock LW et al. (1983) N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease.

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13.

Baumkötter J et al. (1985) N-Acetylneuraminic acid storage disease.

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14.

Paschke E et al. (1986) Infantile type of sialic acid storage disease with sialuria.

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15.

Mancini GM et al. (1986) Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.

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16.

Cooper A et al. (1988) Infantile sialic acid storage disease in two siblings.

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17.

Thomas GH et al. (1989) Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.

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18.

Lake BD et al. (1989) Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.

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19.

Blom HJ et al. (1990) Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.

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20.

Sperl W et al. (1990) Nephrosis in two siblings with infantile sialic acid storage disease.

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21.

Cameron PD et al. (1990) Sialic acid storage disease.

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22.

Mancini GM et al. (1991) Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

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23.

Schleutker J et al. (1991) Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.

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24.

Haataja L et al. (1992) Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.

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25.

Mancini GM et al. (1992) Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

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26.

Lefebvre G et al. (1999) Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.

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27.

Havelaar AC et al. (1999) Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.

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28.

Verheijen FW et al. (1999) A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

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29.

OMIM.ORG article

Omim 269920 external link
Update: 14. August 2020
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