Primary carnitine deficiency is a rare genetic disorder that affects the body's ability to transport fatty acids into the mitochondria, where they are converted into energy. This condition is caused by mutations in the SLC22A5 gene, which is responsible for producing a protein that helps transport carnitine, a vital nutrient for energy production. Individuals with primary carnitine deficiency may experience symptoms such as muscle weakness, fatigue, and low blood sugar levels. If left untreated, it can lead to serious complications, including heart problems and liver dysfunction. Early diagnosis and treatment, often involving carnitine supplementation, can help manage the condition effectively.