GM11319
LCL from B-Lymphocyte
Description:
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of Lipid Metabolism |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
|
Homo sapiens
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Common Name
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Human
|
Remarks
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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; <10% activity. |
|
Gene |
ACADM |
Chromosomal Location |
1p31 |
Allelic Variant 1 |
A56P; MCAD DEFICIENCY |
Identified Mutation |
ALA56PRO |
|
Gene |
ACADM |
Chromosomal Location |
1p31 |
Allelic Variant 2 |
A56P; MCAD DEFICIENCY |
Identified Mutation |
ALA56PRO |
Remarks |
Clinically affected; first episode at 9 months of age - EEG revealed mild diffuse slow wave, elevated liver function tests, enlarged liver, seizures; urine test showed hexanoylglycine and phenylpropionylglycine; episodic hypoketotic hypoglycemia resembling Reye syndrome; leukocytes show <10% of normal MCAD activity; donor subject is homozygous for a G>C transition at nucleotide 166 in exon 3 of the ACADM (MCAD) gene (c.166G>C) resulting in the substitution of proline for alanine at codon 56 [Ala56Pro (A56P)]; microarray showed complete UPD chromosome 1, paternal. |
dbSNP |
dbSNP ID: 11541 |
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 |
|
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 |
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ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM |
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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 |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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