Organic Acidemias
Organic acidemias are a group of rare genetic disorders that affect the body's ability to break down certain proteins and fats. This leads to the accumulation of organic acids in the blood, which can cause various health problems. Symptoms may include vomiting, lethargy, and developmental delays, often appearing in infancy or early childhood.
Diagnosis typically involves blood and urine tests to measure organic acid levels. Treatment usually focuses on dietary management, which may include a special diet low in certain proteins, and sometimes the use of medications to help remove excess acids from the body. Early detection and intervention are crucial for better outcomes.