Description:
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Lipid Metabolism |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
10 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
long-chain-acyl-CoA dehydrogenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.3.99.13 |
|
Remarks |
Affected; history of 2 unexplained cardiac arrests in the first 10 weeks after birth, the second was associated with hypoglycemia and severe hypertrophic cardiomyopathy; at age 13 subject has frequent episodes of hypoglycemia and transient muscle weakness provoked by illness or fasting; developmental delay; no immunoreactive VLCAD protein detected in fibroblasts; subject is homozygous for a 105 bp deletion at the first nucleotide of the donor splice site after exon 11 ( g+1 a; GAGgtgag to GAGatgag).
*This sample was originally classified as LCAD because the sample was submitted prior to VLCAD being defined in 1995.
|
Fang X, Kaduce TL, VanRollins M, Weintraub NL, Spector AA, Conversion of epoxyeicosatrienoic acids (EETs) to chain-shortened epoxy fatty acids by human skin fibroblasts. J Lipid Res41:66-74 2000 |
PubMed ID: 10627503 |
|
Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, Sims HF, Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood Proceedings of the National Academy of Sciences of the United States of America92:10496-500 1995 |
PubMed ID: 7479827 |
Passage Frozen |
10 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
Serum |
10% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
|
|