Fatty Acid Oxidation Disorders |
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 |