Fatty Acid Oxidation Disorders

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Disease Name Medium-chain acyl-CoA dehydrogenase deficiency
Alternate name(s) None
Acronym MCADD
Disease Classification Fatty Acid Oxidation Disorder
Variants N/A
Variant name

N/A

Symptom onset Typically 6-24 months but ranges from neonatal to adult
Symptoms

Recurrent episodes of hypoglycemia, vomiting, coma, sudden death and possible seizures. Hepatomegaly usually present.

Natural history without treatment Metabolic episodes can cause developmental and physical delays, neurologic impairment and sudden death.
Natural history with treatment INormal intellect and physical functioning expected.
Treatment Dietary: avoid fasting, low-fat diet (<30% of dietary fat), carnitine supplementation, cornstarch supplementation.
Other N/A
Physical phenotype None
Inheritance Autosomal recessive
General population incidence 1/15,000
Ethnic differences Yes
Population Incidence higher in Northern Europeans and U.S Caucasians.
Ethnic incidence Approximately 1/70 carrier rate
Enzyme location Liver, heart, muscle and fibroblasts
Enzyme Function Mitochondrial beta-oxidation of fat stores
Missing Enzyme Medium-chain acyl-CoA dehydrogenase
Metabolite changes IIncreased medium chain fatty acids, increased glycine/carnitine esters, increased dicarboxylic acids.
Gene ACADM
Gene location 1p31
DNA testing available Yes
DNA testing detail One mutation K304E (985A) accounts for majority of disease incidence, 80% of affected individuals are homozygous for this mutation and 18% of affected individuals are heterozygous.
Prenatal testing DNA and enzymatic testing
MS/MS Profile Elevated C10:1, C8, C6
OMIM Link http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008
Genetests Link www.genetests.org
Support Group

FOD Family Support Group
http://www.fodsupport.org

Organic Acidemia Association
Http://www.oaanews.org

Save Babies through Screening Foundation
http://www.savebabies.org

Genetic Alliance
http://www.geneticalliance.org

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