Description:
SIALIC ACID STORAGE DISEASE; SIASD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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YUGOSLAVIAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Remarks |
Yugoslavian; gargoyle-like features; hepatosplenomegaly; severe progressive mental and neurologic involvement; similarly affected brother; markedly elevated free sialic acid in urine and cultured skin fibro; normal acid hydrolases |
| Bardor M, Nguyen DH, Diaz S, Varki A, Mechanism of uptake and incorporation of the non-human sialic acid N-glycolylneuraminic acid into human cells The Journal of biological chemistry280:4228-37 2004 |
| PubMed ID: 15557321 |
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| Schmid JA, Mach L, Paschke E, Glossl J, Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes. Impaired proteolytic processing of cathepsin B in fibroblasts of patients with lysosomal sialic acid storage disease. J Biol Chem274:19063-71 1999 |
| PubMed ID: 10383408 |
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| Hancock LW, Ricketts JP, Hildreth J 4th, Impaired proteolytic processing of lysosomal N-acetyl-beta- hexosaminidase in cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease. Biochem Biophys Res Commun152:83-92 1988 |
| PubMed ID: 2965873 |
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| Tondeur M, Libert J, Vamos E, Van Hoof F, Thomas GH, Strecker G, Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Eur J Pediatr139:142-7 1982 |
| PubMed ID: 7151835 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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