Description:
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid 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 |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Hypotonia; seizures; mild dysmorphic features; expired at age 11.5 mo; deficient peroxisomal B-oxidation at the bifunctional step; elevated VLCFA & impaired VLCFA in fibros; partially deficient phytanic acid oxidation in fibros |
| McGuinness MC, Moser AB, Poll-The BT, Watkins PA, Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation. Biochem Med Metab Biol49:228-42 1993 |
| PubMed ID: 8484962 |
| |
| Kaufman, Zellweger-like neuronal migration abnormality in a patient with an isolated defect of peroxisomal fatty acid oxidation. Ann Neurol30:497 (1991):228-42 1991 |
| PubMed ID: 8484962 |
| Passage Frozen |
12 |
| Split Ratio |
1:2 |
| 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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