Fatty Acid Oxidation Disorders

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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.

Hypoketotic hypoglycemia, hepatomegaly, myopathy,
cardiomyopathy, adult-onset 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 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
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

Genetic Alliance

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