NA17476
DNA from Fibroblast
Description:
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Hispanic/Latino
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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 LINE assay |
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| Gene |
ACAD8 |
| Chromosomal Location |
11q25 |
| Allelic Variant 1 |
R302Q; ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY |
| Identified Mutation |
ARG302GLN |
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| Gene |
ACAD8 |
| Chromosomal Location |
11q25 |
| Allelic Variant 2 |
R302Q; ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY |
| Identified Mutation |
ARG302GLN |
| Remarks |
Clinically affected with isolated deficiency of isobutyryl-Co-A dehydrogenase; parents are first cousins; birth weight 6 lbs and 2 ounces; birth length 20 inches; breast fed for first 6 weeks of life with no problems but developed feeding intolerance when placed on formula; at 11 months of age subject found to be anemic, have cardiomegaly, and was <5th percentile for growth; echocardiogram at 11 months diagnosed dilated cardiomyopathy and atrial septal defect; endomyocardial biopsy found no evidence of myocarditis, ischemia, or signs of storage; severe plasma carnitine deficiency noted at 12 months (total carnitine 6um, free carnitine 5 um, esterified carnitine 1 um); plasma acylcarnitine analysis during treatment with carnitine revealed markedly increased butyryl/isobutyrylcarnitine; responded well to carnitine therapy and by age 27 months subject had normal growth and development and no evidence of cardiac dysfunction; donor subject is homozygous for a G>A transition at nucleotide 905 in exon 8 of the ACAD8 gene [905G>A] resulting in a substitution of glutamine for arginine at codon 302 [Arg302Gln (R302Q)]. |
| Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J., Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab77(1-2):68-79 2002 |
| PubMed ID: 12359132 |
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| Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L, Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab65(4):264-71 1998 |
| PubMed ID: 9889013 |
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