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 |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.81 |
| Passage Frozen |
13 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 |
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. |
| Remarks |
Reyes syndrome-like episodes with hypoglycemia; low plasma & tissue carnitine levels; dicarboxylicaciduria; failure of ketosis; mild hyperammonemia; 13% of norm medium-chain Acyl CoA dehydrogenase act in fibro; homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD) |
| 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 |
| Passage Frozen |
13 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|