Organic Acid Disorders

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Disease Name Isobutyryl-CoA dehydrogenase deficiency
Alternate name(s) Acyl-CoA dehydrogenase family, member 8
Acronym N/A
Disease Classification Organic Acid Disorder/Fatty Acid Oxidation Defect
Variants None
Variant name N/A
Symptom onset 12 months of age
Symptoms Initial patient presented with dilated cardiomyopathy, low carnitine and anemia. Was small for age at presentation, but normal growth resumed with treatment.
Natural history without treatment Unknown.
Natural history with treatment Improvement in symptoms of cardiomyopathy and anemia with improved growth and normal development.
Treatment Moderate protein restriction. Carnitine therapy.
Other N/A
Physical phenotype Cardiomyopathy. No dysmorphisms reported.
Inheritance Presumed autosomal recessive
General population incidence Rare. Less than five cases reported.
Ethnic differences None known
Population N/A
Ethnic incidence N/A
Enzyme location Mitochondria
Enzyme Function Metabolism of valine
Missing Enzyme Isobutyryl-CoA dehydrogenase
Metabolite changes N/A
Gene ACAD8
Gene location 11q25
DNA testing available No
DNA testing detail No common mutations known
Prenatal testing May be possible by enzyme analysis on amniocytes or CVS.
MS/MS Profile C4 butyryl carnitine elevation
OMIM Link www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773
Genetests Link None
Support Group

Fatty Acid Oxidation Support Network
www.fodsupport.org

Save Babies through Screening Foundation
www.savebabies.org

Genetic Alliance
www.geneticalliance.org

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