Description:
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
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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 |
10 |
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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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| 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 |
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| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 1 |
609575.0002; ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
| Identified Mutation |
IVS11DS, G-A, +1; In a patient with VLCAD deficiency associated with infantile cardiomyopathy and sudden death, Strauss et al. (1995) found homozygosity for a mutation in the consensus dinucleotide of the donor splice site in intron 11, g(+1) to a, resulting in the skipping of exon 11.
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| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 2 |
609575.0002; ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
| Identified Mutation |
IVS11DS, G-A, +1; In a patient with VLCAD deficiency associated with infantile cardiomyopathy and sudden death, Strauss et al. (1995) found homozygosity for a mutation in the consensus dinucleotide of the donor splice site in intron 11, g(+1) to a, resulting in the skipping of exon 11.
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| 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 mRNA 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.
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| 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 |
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| 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 |
| dbSNP |
dbSNP ID: 10849 |
| Gene Cards |
ACADVL |
| Gene Ontology |
GO:0004466 long-chain-acyl-CoA dehydrogenase activity |
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GO:0005739 mitochondrion |
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GO:0006118 electron transport |
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GO:0006631 fatty acid metabolism |
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GO:0006635 fatty acid beta-oxidation |
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GO:0015980 energy derivation by oxidation of organic compounds |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:37 |
| NCBI GTR |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| OMIM |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| Omim Description |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
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VLCAD DEFICIENCYACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, INCLUDED; ACADVL, INCLUDED |
| 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 with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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