Description:
REFSUM DISEASE, INFANTILE FORM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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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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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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| phytanoyl-CoA dioxygenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.14.11.18 |
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| Remarks |
Severe devel delay; facial dysmorphism; sensorineural hearing loss; severe visual impairment with ret pig; elev serum phytanic & pipecolic acid; defic fibro phytanic acid oxidase act; increas ratio of C26/C22 very long chain fatty acids |
| Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly JW, Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a
therapeutic strategy for Gaucher disease. Proc Natl Acad Sci U S A99(24):15428-33 2002 |
| PubMed ID: 12434014 |
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| Imamura A, Tamura S, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Orii T, Kondo N, Osumi T, Fujiki Y, Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders. Hum Mol Genet7:2089-94 1998 |
| PubMed ID: 9817926 |
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| Imamura A, Tsukamoto T, Shimozawa N, Suzuki Y, Zhang Z, Imanaka T, Fujiki Y, Orii T, Kondo N, Osumi T, Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders American journal of human genetics62:1539-43 1998 |
| PubMed ID: 9585609 |
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| Yajima S, Suzuki Y, Shimozawa N, Yamaguchi S, Orii T, Fujiki Y, Osumi T, Hashimoto T, Moser HW, Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet88:491-9 1992 |
| PubMed ID: 1372585 |
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| Budden SS, Kennaway NG, Buist NR, Poulos A, Weleber RG, Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J Pediatr108:33-9 1986 |
| PubMed ID: 2418187 |
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| Weleber RG, Tongue AC, Kennaway NG, Budden SS, Buist NR, Ophthalmic manifestations of infantile phytanic acid storage disease. Arch Ophthalmol102:1317-21 1984 |
| PubMed ID: 6206835 |
| Passage Frozen |
7 |
| 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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