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 |
| 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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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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WELSH/ITALIAN
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
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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 |
Clinically affected; hypoketotic hypoglycemia; diagnosed at age 5 days; onset of symptoms at age 5 months; on levocarnitine; has g-tube; see GM23496 Fibroblast; donor subject is homozygous for an A>G transition at nucleotide 985 in exon 11 of the ACADM gene (985A>G) resulting in the substitution of glutamic acid for lysine at codon 304 [Lys304Glu (K304E)] |
| 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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