NA08684
DNA from Fibroblast
Description:
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
|
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
|
|
| 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 |
| 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 |
| 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 |
| 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 |
|