How common is short-chain acyl-CoA dehydrogenase deficiency?
How Common Is Short-Chain Acyl-CoA Dehydrogenase Deficiency? SCAD deficiency affects 1 in 40,000 to 1 in 100,000 newborns. Researchers have hypothesized that this disease may be more common than believed because some individuals with the disease are asymptomatic or have mild symptoms.
What is short-chain deficiency?
Short-chain acyl-CoA dehydrogenase deficiency (SCAD) 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 energy the body needs to function.
How may deficiencies in ACADs affect an individual?
Some infants and children with SCAD deficiency may exhibit vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive).
What is CoA deficiency?
Overview. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder that prevents your body from breaking down certain fats and converting them into energy. As a result, the level of sugar in your blood can drop dangerously low (hypoglycemia).
What is Vlcad deficiency?
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
How should a patient with a medium-chain acyl-CoA dehydrogenase deficiency be treated?
Strategies may include:
- Taking simple carbohydrates, such as sugar (glucose) tablets or sweetened, nondiet beverages.
- Seeking emergency medical care if unable to eat or for diarrhea or vomiting. An intravenous (IV) line for extra glucose and additional treatment may be needed.
Where does fatty acyl CoA come from?
Fatty acids are activated by reaction with CoA to form fatty acyl CoA. The reaction normally occurs in the endoplasmic reticulum or the outer mitochondrial membrane. This is an ATP-requiring reaction, yielding AMP and pyrophosphate (PPi). Different enzymes are specific for fatty acids of different chain length.
What is acyl CoA for?
Long-chain acyl-CoAs are substrates for most pathways that use FA for energy production or for the synthesis of complex lipids like phospholipids, cholesteryl esters, ceramide, and TAG. Acyl-CoAs are substrates for β-oxidation in peroxisomes and mitochondria and for ω-oxidation in the endoplasmic reticulum.
What causes short chain acyl CoA dehydrogenase ( scad ) deficiency?
Short-chain acyl-CoA dehydrogenase (SCAD deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy. This condition belongs to a group of disorders known as fatty acid oxidation disorders (FOD). SCAD deficiency is caused by mutations in the ACADS gene.
What causes a shortage of SCAD in cells?
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.
What happens when short chain fatty acids are not metabolized properly?
Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly. 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.