Fatty Acid Oxidation Disorders

Print Version
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.

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 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

Genetic Alliance

  Print Version


THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content ("Content"), including text, graphics, images and information are for general informational purposes only. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET. This project is supported by a grant from the Maternal and Child Health Bureau, Health Resources and Service Administration, Genetic Services Branch, MCH Project #:1H46 MC 00189-03 http://mchb.hrsa.gov