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Isobutyryl-CoA Dehydrogenase Deficiency
ACAD8 gene
Isobutyryl-CoA dehydrogenase (IBD) deficiency is an autosomal recessive inborn error of valine metabolism that was first reported in a child with dilated cardiomyopathy, anemia and secondary carnitine deficiency. Very few patients have been reported with IBD deficiency in the literature with the majority of reported patients having been identified after the detection of elevated C4-carnitine by tandem mass spectrometry based newborn screening. Patients first identified by screening have either remained asymptomatic or presented with milder clinical phenotypes including muscle hypotonia, and mild developmental delay. In 8 patients with elevated C4-carnitine on newborn screening and subsequent diagnosis of IBD deficiency after demonstration of increased levels of isobutyrylcarnitine in fibroblasts, mutations were identified on 16/16 ACAD8 alleles.
Using genomic DNA, bi-directional sequence of the coding region and splice junctions of the ACAD8 gene is analyzed. If sequencing identifies a mutation on only one allele of the ACAD8 gene, and if clinically indicated, reflex deletion/duplication testing (ExonArrayDx) will be performed at no additional charge to evaluate for a deletion/duplication of one or more exons of this gene. Carrier testing and prenatal diagnosis is available once the mutations in the family have been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ACYL-CoA DEHYDROGENASE, isobutyryl-CoA, methacrylyl-CoA, isobutyrylglycine
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