Fatty Acid Oxidation Disorders |
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| Disease Name | Short-chain acyl-CoA dehydrogenase deficiency |
| Alternate name(s) | N/A |
| Acronym | SCADD |
| Disease Classification | Fatty Acid Oxidation Disorder |
| Variants | Yes |
| Variant name | Late-onset with chronic myopathy |
| Symptom onset | Neonatal - but very variable; may be asymptomatic. |
| Symptoms | Neonatal - failure to thrive, hypotonia, metabolic acidosis, seizures and developmental delay. |
| Natural history without treatment | Developmental delay, hypotonia and muscle weakness have been observed, but the vast majority of patients detected via MS/MS newborn screening have been entirely asymptomatic. |
| Natural history with treatment | The efficacy of treatment is unknown. |
| Treatment | Carnitine supplementation, restriction of dietary fat. A few patients have shown improvements on riboflavin supplements. |
| Other | Acute fatty liver of pregnancy and HELLP syndrome have been reported as maternal complications in pregnancy, but may be coincidental. |
| Physical phenotype | None reported |
| Inheritance | Autosomal recessive |
| General population incidence | 1:40,000 – 1:100,000 |
| Ethnic differences | None |
| Population | N/A |
| Ethnic incidence | N/A |
| Enzyme location | Mitochondrial matrix in liver, muscle, fibroblasts |
| Enzyme Function | |
| Missing Enzyme | Short-chain acyl-CoA dehydrogenase |
| Metabolite changes | Ethymalonic acid in urine, methylsuccinate and butyrylglycines in urine. |
| Gene | ACADS |
| Gene location | 12g22-qter |
| DNA testing available | Yes - but interpretation of results is difficult. |
| DNA testing detail | Limited mutational hotspots and common susceptibility alleles |
| Prenatal testing | Enzymatic |
| MS/MS Profile | Elevated C4 Cbutyrylcarnitine |
| OMIM Link | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885 |
| Genetests Link | www.genetests.org |
| Support Group | FOD Family Support Group Organic Acidemia Association Save Babies through Screening Foundation |
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