NA07843
DNA from Fibroblast
Description:
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD
HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
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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 |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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| 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; 10% activity. |
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| Gene |
HADHA |
| Chromosomal Location |
2p23 |
| Allelic Variant 1 |
600890.0001; LCHAD DEFICIENCY |
| Identified Mutation |
GLU510GLN; IJlst et al. (1994) identified a 1528G-C transversion in exon 15 of the HADHA gene, resulting in a glu510-to-gln (E510Q) substitution, in approximately 87% of the chromosomes in patients with LCHAD deficiency (609015). |
| Remarks |
Affected; episodes of vomiting, diarrhea, lethargy, hypoglycemia, and dicarboxylicaciduria; low plasma carnitine levels; 10% of normal long-chain Acyl CoA dehydrogenase activity in leukocytes; subject has a mutation in the gene coding for the alpha-subunit of the mitochondrial trifunctional protein (1528G>C).
*This sample was originally classified as LCAD
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| Raimo S, Zura-Miller G, Fezelinia H, Spruce LA, Zakopoulos I, Mohsen AW, Vockley J, Ischiropoulos H, Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders Redox biology41:101923 2021 |
| PubMed ID: 33725513 |
| dbSNP |
dbSNP ID: 11060 |
| Gene Cards |
HADHA |
| Gene Ontology |
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity |
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GO:0003985 acetyl-CoA C-acetyltransferase activity |
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GO:0004300 enoyl-CoA hydratase activity |
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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:0008152 metabolism |
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GO:0015980 energy derivation by oxidation of organic compounds |
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GO:0016491 oxidoreductase activity |
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GO:0016829 lyase activity |
| NCBI Gene |
Gene ID:3030 |
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Gene ID:37 |
| NCBI GTR |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA |
| OMIM |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA |
| Omim Description |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
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VLCAD DEFICIENCYACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, INCLUDED; ACADVL, INCLUDED |
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