Medium-chain acyl-CoA dehydrogenase deficiency, abbreviated MCAD deficiency or MCADD, is a disorder of fatty acid oxidation. People with it cannot properly break down medium-chain fatty acids into acetyl-CoA, which impairs the body's ability to draw on fat for energy. The condition is characterized by low blood sugar (hypoglycemia) and, without timely intervention, sudden death, with episodes most often brought on by periods of fasting or vomiting. Before expanded newborn screening became available it was an underdiagnosed cause of sudden death in infants, whereas individuals identified before symptoms begin have an excellent prognosis. It is most prevalent in people of Northern European Caucasian descent, with an incidence of about 1 in 4,000 to 1 in 17,000 depending on the population. Treatment is mainly preventive, by avoiding fasting and other situations where the body relies on fatty acid oxidation to supply energy.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Medium-chain acyl-coenzyme A dehydrogenase deficiency (Wikipedia)
Lead, first sentence
is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA
Article text
MCADD is inherited in an autosomal recessive manner, meaning an affected individual must inherit a mutated allele from both of their parents.
Section: Genetics (disease-category)
MCADD is inherited in an autosomal recessive manner, meaning an affected individual must inherit a mutated allele from both of their parents.
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