Short-chain acyl-CoA dehydrogenase deficiency or SCAD deficiency is a condition in which the body is unable to break down certain fats. SCAD is considered a fatty acid oxidation condition because people affected by the condition are unable to change some of the fats they eat into the energy the body needs to function.
Causes and risk factors
1. Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids.
2. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
3. Mutations in the ACADS gene lead to a shortage (deficiency) of the SCAD enzyme within cells. Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly.
4. As a result, these fats are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy, hypoglycemia, and muscle weakness. It remains unclear why some people with SCAD deficiency never develop any symptoms.
1. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
2. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition
Vomiting,Low blood sugar (hypoglycemia),A lack of energy (lethargy),Poor feeding,Failure to gain weight and grow at the expected rate (failure to thrive)
A condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting)