Isobutyryl-CoA Dehydrogenase Deficiency

Isobutyryl-CoA dehydrogenase (IBD) deficiency is an 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.

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Discriminate between IBD deficiency and SCAD deficiency
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing


4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs


  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
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  1. Oglesbee et al., (2007) Genet Med 9(2):108-116