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GM17473 Fibroblast

Description:

ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS

Affected:

Yes

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)].

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
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.
 
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.

Phenotypic Data

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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)].

Publications

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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

External Links

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dbSNP dbSNP ID: 19594
Gene Cards ACADS
Gene Ontology GO:0004085 butyryl-CoA dehydrogenase activity
GO:0005739 mitochondrion
GO:0006091 energy pathways
GO:0006118 electron transport
GO:0006631 fatty acid metabolism
GO:0006635 fatty acid beta-oxidation
GO:0016491 oxidoreductase activity
NCBI Gene Gene ID:35
NCBI GTR 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
OMIM 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Omim Description ACADS DEFICIENCY, INCLUDED
  ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAINACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, INCLUDED
  ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
  LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED
  SCAD DEFICIENCY, INCLUDED
  SCADH DEFICIENCY, INCLUDED
  SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD

Culture Protocols

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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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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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