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 |
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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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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 |
606885.0007; SCAD DEFICIENCY |
| Identified Mutation |
GLY185SER; Corydon et al (2001) studied 10 patients with ethylmalonic aciduria and SCAD deficiency (201470) in fibroblasts and found a 625G-A change in the SCAD gene, resulting in a gly185-to-ser (G185S) substitution, in 9 of the patients, 5 of whom were homozygous for this variation (3 had additional mutations). One patient with dysmorphic features and developmental delay was heterozygous for this mutation and for 511C-T (606885.0006), both of which have been referred to as 'variations,' because 14% of the general population has been found to be either homozygous or double heterozygous for them. Expression studies in E. coli showed that the G185S SCAD protein has 86% of wildtype activity. |
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| Gene |
ACADS |
| Chromosomal Location |
12q22-qter |
| Allelic Variant 2 |
606885.0007; SCAD DEFICIENCY |
| Identified Mutation |
GLY185SER; Corydon et al (2001) studied 10 patients with ethylmalonic aciduria and SCAD deficiency (201470) in fibroblasts and found a 625G-A change in the SCAD gene, resulting in a gly185-to-ser (G185S) substitution, in 9 of the patients, 5 of whom were homozygous for this variation (3 had additional mutations). One patient with dysmorphic features and developmental delay was heterozygous for this mutation and for 511C-T (606885.0006), both of which have been referred to as 'variations,' because 14% of the general population has been found to be either homozygous or double heterozygous for them. Expression studies in E. coli showed that the G185S SCAD protein has 86% of wildtype activity. |
| Remarks |
Clinically affected; mother had acute fatty liver of pregnancy; failure to thrive; mild developmental delay; mitochondrial extracts from muscle and fibroblasts were deficient of small-chain Acyl-CoA dehydrogenase activity; mild elevation of butyrylcarnitine by plasma acylcarnitine analysis; mild ethylmalonic aciduria (23 mmol/mol creatinine, control <18 mmol/mol) by urine organic acid analysis; molecular genetic analysis failed to identify the common 1528G>C mutation in the TFP gene; donor subject is homozygous for a G>A transition at nucleotide 625 of the ACADS gene [625G>A] resulting in a substitution of serine for glycine at codon 185 [Gly185Ser (G185S)]. |
| Matern D, Hart P, Murtha AP, Vockley J, Gregersen N, Millington DS, Treem WR, Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr138(4):585-8 2001 |
| PubMed ID: 11295727 |
| dbSNP |
dbSNP ID: 19594 |
| 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 |
| Split Ratio |
1:2 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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