citrate transport disorders
Citrate transport disorders are conditions that affect the body's ability to transport citrate, a compound important for energy production and metabolism. These disorders can lead to imbalances in citrate levels, which may impact various bodily functions, including the regulation of calcium and the metabolism of fats and carbohydrates.
The most common type of citrate transport disorder is associated with mutations in the SLC13A5 gene, which encodes a protein responsible for citrate transport in cells. Symptoms can vary but may include metabolic issues, kidney stones, and other complications related to energy metabolism. Early diagnosis and management are crucial for improving outcomes.