Definition:
SCAD deficiency (short-chain acyl-coenzyme A dehydrogenase deficiency) pertains to a defect in the oxidation of fatty acids in the body. This disorder affects enzymes that are necessary in breaking down a group of fats known as short-chain fatty acids.
Symptoms and Signs:
Individuals with SCAD deficiency typically suffer from hypoglycemia (low blood sugar), vomiting, lethargy (low energy), poor feeding, weight loss, growth impairment, and failure to thrive.
Affected infants usually show hypotonia (or poor muscle tone), developmental defects, seizures, and microcephaly (small head size). These symptoms may be triggered by periods of fasting or by exposure to viral infections and other illnesses.
In some cases, SCAD deficiency does not manifest with symptoms until the infected individual reaches adulthood, at which time muscle weakness and wasting occur. There are also known cases where affected individuals remain asymptomatic for most of their life and are never diagnosed.
Causes:
SCAD deficiency is a genetic autosomal recessive disorder caused by mutations in the ACADS gene, leading to insufficient amounts of the short-chain acyl-CoA dehydrogenase enzyme. Diminished levels of this particular enzyme impair the break down of short-chain fatty acids. As a consequence, these short-chain fatty acids are not processed in the mitochondria and converted into energy.
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