ACSS2
ACSS2 Deficiency: A Comprehensive Guide
Description
ACSS2 deficiency is a rare inherited disorder that affects the body‘s ability to convert acetate, a byproduct of fat metabolism, into energy. This process occurs in the mitochondria, the energy-producing organelles of cells.
Without functional ACSS2, acetate accumulates in the body, leading to a range of health problems. The severity of symptoms can vary widely from person to person, depending on the extent of the enzyme deficiency.
Associated Diseases
ACSS2 deficiency is associated with several health conditions, including:
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): This is a severe form of ACSS2 deficiency that affects the brain, heart, and other organs. Symptoms can include seizures, stroke-like episodes, muscle weakness, and developmental delays.
- Leigh syndrome: A fatal neurodegenerative disorder that typically occurs in infants. Symptoms include seizures, loss of muscle control, and delayed development.
- Cardiomyopathy: A heart muscle disease that can weaken the heart and lead to heart failure.
- Hepatic steatosis: A buildup of fat in the liver, which can cause liver damage and liver failure.
- Pancreatitis: Inflammation of the pancreas, which can cause abdominal pain, nausea, and vomiting.
Did you Know ?
Approximately 1 in 500,000 individuals worldwide are estimated to have ACSS2 deficiency.
