Fatty Acid Oxidation Disorders |
Disease Name | Very long-chain acyl-CoA dehydrogenase deficiency |
Alternate name(s) | N/A |
Acronym | VLCADD |
Disease Classification | Fatty Acid Oxidation Disorder |
Variants | Yes |
Variant name | With and without cardiomyopathy |
Symptom onset | Primarily neonatal but some variability. |
Symptoms | Hypoketotic hypoglycemia, hepatomegaly, myopathy, |
Natural history without treatment | Sudden infant death due to cardiac abnormalities is common. |
Natural history with treatment | Diagnosis and treatment seem to decrease risk for sudden death. |
Treatment | Avoidance of fasting, high carbohydrate, low-fat diet supplemented with MCT oil, IV glucose during illness, cornstarch supplementation, avoidance of long chain fatty acids, possible carnitine supplementation. |
Other | May have history of a sibling dying of SIDS. |
Physical phenotype | No particular dysmorphisms. Cardiomyopathy in infants. |
Inheritance | Autosomal recessive |
General population incidence | Rare – exact incidence not known |
Ethnic differences | None reported |
Population | N/A |
Ethnic incidence | N/A |
Enzyme location | Mitochondrial matrix, heart, liver |
Enzyme Function | Long chain fatty acid beta-oxidation |
Missing Enzyme | Very long-chain acyl-CoA dehydrogenase |
Metabolite changes | IDicarboxylic aciduria, decreased urinary carnitine at times of illness, plasma free carnitine - normal to low, increased plasma long-chain acylcarnitines mildly increased ammonia, lactate and creatine kinase. |
Gene | ACADVL |
Gene location | 17p11.2-p11.1 |
DNA testing available | Available on a research basis |
DNA testing detail | No common mutations have been found. If a mutation in a proband is detected, DNA carrier screening is possible. |
Prenatal testing | Enzyme and protein analysis. If a mutation in a proband is detected, DNA prenatal diagnosis via CVS or amniocytes is possible. |
MS/MS Profile | Elevated C16:1, C14:2, C14:1, C18:1 |
OMIM Link | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201475 |
Genetests Link | www.genetests.org |
Support Group | FOD Family Support Group Save Babies through Screening Foundation |