Description:
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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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 Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| acyl-CoA dehydrogenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.3.99.3; 10% activity. |
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| 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. |
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| 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 |
Recurrent coma; dicarboxylicaciduria; less than 10% of normal medium-chain Acyl CoA Dehydrogenase activity; non-ketotic hypoglycemia; see GM06125 Fibro; homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD) |
| dbSNP |
dbSNP ID: 11015 |
| Gene Cards |
ACADM |
| Gene Ontology |
GO:0003995 acyl-CoA dehydrogenase activity |
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GO:0005759 mitochondrial matrix |
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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:34 |
| NCBI GTR |
201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD |
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607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
| OMIM |
201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD |
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607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
| Omim Description |
ACADM DEFICIENCY, INCLUDED |
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ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
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CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED |
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MCAD DEFICIENCY, INCLUDED |
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MCADH DEFICIENCY, INCLUDED |
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MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE; MCAD; MCADHACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF, INCLUDED |
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