Description:
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
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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 Lipid 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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Hispanic/Latino
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Ethnicity
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VENEZUELAN
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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 |
Clinically affected; consanguineous parents; developmental delay began at 2-3 months; hepatosplenomegaly; cherry red spot; blindness; respiratory difficulty; large inclusions in lymphocytes; affected cousin (GM05652) also in repository. |
| Luu AR, Wong C, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague CM, LeBowitz JH, Yogalingam G, Intermittent enzyme replacement therapy prevents Neu1 deficiency The Journal of biological chemistry295:13556-13569 2019 |
| PubMed ID: 32727849 |
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| Pshezhetsky AV, Potier M, Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate. J Biol Chem271:28359-65 1996 |
| PubMed ID: 8910459 |
| dbSNP |
dbSNP ID: 17449 |
| Gene Ontology |
GO:0004565 beta-galactosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0009341 beta-galactosidase complex |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:2720 |
| NCBI GTR |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| OMIM |
230500 GM1-GANGLIOSIDOSIS, TYPE I |
| Omim Description |
BETA-GALACTOSIDASE-1 DEFICIENCY |
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I |
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GLB1 DEFICIENCYGALACTOSIDASE, BETA-1; GLB1, INCLUDED |
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MORQUIO DISEASE, TYPE B, INCLUDED |
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MPS IVB, INCLUDED |
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MUCOPOLYSACCHARIDOSIS TYPE IVB, INCLUDED |
| 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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