Fatty Acid Oxidation Disorders |
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| Disease Name | Medium-chain acyl-CoA dehydrogenase deficiency |
| Alternate name(s) | None |
| Acronym | MCADD |
| Disease Classification | Fatty Acid Oxidation Disorder |
| Variants | N/A |
| Variant name | N/A |
| Symptom onset | Typically 6-24 months but ranges from neonatal to adult |
| Symptoms | Recurrent episodes of hypoglycemia, vomiting, coma, sudden death and possible seizures. Hepatomegaly usually present. |
| Natural history without treatment | Metabolic episodes can cause developmental and physical delays, neurologic impairment and sudden death. |
| Natural history with treatment | INormal intellect and physical functioning expected. |
| Treatment | Dietary: avoid fasting, low-fat diet (<30% of dietary fat), carnitine supplementation, cornstarch supplementation. |
| Other | N/A |
| Physical phenotype | None |
| Inheritance | Autosomal recessive |
| General population incidence | 1/15,000 |
| Ethnic differences | Yes |
| Population | Incidence higher in Northern Europeans and U.S Caucasians. |
| Ethnic incidence | Approximately 1/70 carrier rate |
| Enzyme location | Liver, heart, muscle and fibroblasts |
| Enzyme Function | Mitochondrial beta-oxidation of fat stores |
| Missing Enzyme | Medium-chain acyl-CoA dehydrogenase |
| Metabolite changes | IIncreased medium chain fatty acids, increased glycine/carnitine esters, increased dicarboxylic acids. |
| Gene | ACADM |
| Gene location | 1p31 |
| DNA testing available | Yes |
| DNA testing detail | One mutation K304E (985A) accounts for majority of disease incidence, 80% of affected individuals are homozygous for this mutation and 18% of affected individuals are heterozygous. |
| Prenatal testing | DNA and enzymatic testing |
| MS/MS Profile | Elevated C10:1, C8, C6 |
| OMIM Link | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008 |
| Genetests Link | www.genetests.org |
| Support Group | FOD Family Support Group Organic Acidemia Association Save Babies through Screening Foundation |
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