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 Save Babies through Screening Foundation |
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