Description:
ADRENOLEUKODYSTROPHY; ALD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Elevated C26 and C22 long-chain fatty acid in cultured skin fibroblasts; adrenal insufficiency; progressive white matter disease; mental retardation; poor visual abilities; progressively deteriorating intellectual and motor function; loss of skills; positive family history; see GM04904B Fibroblast |
| Monternier PA, Singh J, Parasar P, Theurey P, DeWitt S, Jacques V, Klett E, Kaur N, Nagaraja TN, Moller DE, Hallakou-Bozec S, Therapeutic potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy Journal of inherited metabolic disease: 2022 |
| PubMed ID: 35510808 |
| |
| Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL, Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature349:624-6 1991 |
| PubMed ID: 1672039 |
|
|