Propionic Acidemia
Propionic Acidemia is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by a deficiency in the enzyme propionyl-CoA carboxylase, which is essential for metabolizing specific amino acids and fatty acids. This leads to the accumulation of propionic acid in the blood, which can cause various health issues.
Symptoms of Propionic Acidemia can include vomiting, lethargy, and developmental delays. If left untreated, it can lead to severe complications, including metabolic crises and neurological damage. Early diagnosis and management, often involving a special diet and supplements, are crucial for improving outcomes for affected individuals.