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NA08684 DNA from Fibroblast

Description:

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Affected:

Yes

Sex:

Female

Age:

1 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Country of Origin USA
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; recurrent episodes of vomiting, diarrhea, hypoglycemia, failure of ketosis, coma, and low plasma carnitine levels; deficient fibro medium-chain Acyl CoA dehydrogenase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 985 in exon 11 of the ACADM (MCAD) gene (c.985A>G) resulting in a substitution of glutamic acid for lysine at codon 304 [Lys304Glu (K304E)also known as K329E] and the second allele has a G>A transition at nucleotide 347 in exon 5 (c.347G>A) resulting in a substitution of tyrosine for cysteine at codon 116 [Cys116Tyr (C116Y)also known as C91Y]; donor subject is also heterozygous for the following polymorphisms: c.-34T>C (5 prime UTR), IVS2-20T>C, IVS3+10T>C, c.351A>C (p.T117), and IVS5+32C>G

Characterizations

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Passage Frozen 14
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
acyl-CoA dehydrogenase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.3.99.3
 
Gene ACADM
Chromosomal Location 1p31
Allelic Variant 1 607008.0001; MCAD DEFICIENCY
Identified Mutation LYS304GLU; In 9 patients with MCAD deficiency, Matsubara et al. [Lancet 335: 1589 (1990)] found an A-to-G transition which resulted in the substitution of lysine (AAA) by glutamic acid (GAA) at residue 329 of the enzyme (K329E). This A-to-G transition occurred at position 985 (G985) of the coding region of the MCAD gene.
 
Gene ACADM
Chromosomal Location 1p31
Allelic Variant 2 C116Y; MCAD DEFICIENCY
Identified Mutation CYS116TYR

Phenotypic Data

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Remarks Clinically affected; recurrent episodes of vomiting, diarrhea, hypoglycemia, failure of ketosis, coma, and low plasma carnitine levels; deficient fibro medium-chain Acyl CoA dehydrogenase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 985 in exon 11 of the ACADM (MCAD) gene (c.985A>G) resulting in a substitution of glutamic acid for lysine at codon 304 [Lys304Glu (K304E)also known as K329E] and the second allele has a G>A transition at nucleotide 347 in exon 5 (c.347G>A) resulting in a substitution of tyrosine for cysteine at codon 116 [Cys116Tyr (C116Y)also known as C91Y]; donor subject is also heterozygous for the following polymorphisms: c.-34T>C (5 prime UTR), IVS2-20T>C, IVS3+10T>C, c.351A>C (p.T117), and IVS5+32C>G

Publications

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Romppanen EL, Mononen T, Mononen I, Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay [see comments] Clin Chem44:68-71 1998
PubMed ID: 9550560

External Links

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dbSNP dbSNP ID: 21819
Gene Cards ACADM
Gene Ontology GO:0003995 acyl-CoA dehydrogenase activity
GO:0005759 mitochondrial matrix
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:34
NCBI GTR 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
OMIM 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
Omim Description ACADM DEFICIENCY, INCLUDED
  ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
  CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED
  MCAD DEFICIENCY, INCLUDED
  MCADH DEFICIENCY, INCLUDED
  MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE; MCAD; MCADHACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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