NA17471
DNA from Fibroblast
Description:
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
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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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ACADS |
| Chromosomal Location |
12q22-qter |
| Allelic Variant 1 |
606885.0006; SCAD DEFICIENCY |
| Identified Mutation |
ARG147TRP; Gregersen et al. (1998) found a 511C-T mutation (resulting in an arg147-to-trp amino acid substitution) in 13 of 130 and 15 of 67 625G polymorphic alleles, respectively, of normal controls and patients with elevated EMA excretion; they never found it in association with the 625A variant. This overrepresentation of the haplotype 511T-625G among the common 625G alleles in patients compared with controls was significant (P less than 0.02), suggesting that the allele 511T-625G, like 511C-625A, confers susceptibility to ethylmalonicaciduria. Gregersen et al. (1998) concluded that ethylmalonicaciduria, a commonly detected biochemical phenotype, is a complex multifactorial/polygenic condition where, in addition to the role of SCAD susceptibility alleles, other genetic and environmental factors are involved.
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| Gene |
ACADS |
| Chromosomal Location |
12q22-qter |
| Allelic Variant 2 |
606885.0006; SCAD DEFICIENCY |
| Identified Mutation |
ARG147TRP; Gregersen et al. (1998) found a 511C-T mutation (resulting in an arg147-to-trp amino acid substitution) in 13 of 130 and 15 of 67 625G polymorphic alleles, respectively, of normal controls and patients with elevated EMA excretion; they never found it in association with the 625A variant. This overrepresentation of the haplotype 511T-625G among the common 625G alleles in patients compared with controls was significant (P less than 0.02), suggesting that the allele 511T-625G, like 511C-625A, confers susceptibility to ethylmalonicaciduria. Gregersen et al. (1998) concluded that ethylmalonicaciduria, a commonly detected biochemical phenotype, is a complex multifactorial/polygenic condition where, in addition to the role of SCAD susceptibility alleles, other genetic and environmental factors are involved.
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| Remarks |
Clinically affected; hypotonia; hypoglycemia; developmental delay; ethylmalonic aciduria; EMA elevated in urine; elevated butyryl and carnitine; deficient small-chain Acyl-CoA dehydrogenase by electron-transferring flavoprotein reduction assay; undetectable small-chain Acyl-CoA dehydrogenase activity in fibroblasts (undetectable represents <10% of control SCAD activity); donor subject is homozygous for a C>T transition at nucleotide 511 of the ACADS gene [511C>T] resulting in a substitution of tryptophan for arginine at codon 147 [Arg147Trp (R147W)]; exon counting and quantitative PCR have not been done to confirm homozygosity |
| Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N, Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res49(1):18-23 2001 |
| PubMed ID: 11134486 |
| dbSNP |
dbSNP ID: 13952 |
| Gene Cards |
ACADS |
| Gene Ontology |
GO:0004085 butyryl-CoA dehydrogenase activity |
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GO:0005739 mitochondrion |
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GO:0006091 energy pathways |
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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:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:35 |
| NCBI GTR |
201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD |
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606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
| OMIM |
201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD |
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606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
| Omim Description |
ACADS DEFICIENCY, INCLUDED |
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ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAINACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, INCLUDED |
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ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
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LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED |
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SCAD DEFICIENCY, INCLUDED |
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SCADH DEFICIENCY, INCLUDED |
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SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD |
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