Tag: Cpt i deficiency

Carnitine plays a critical role in energy metabolism, with nearly 95% of the body's total carnitine stored in the skeletal muscles. In a standard blood test, only a small fraction of this total pool is measured, yet high levels of circulating free carnitine can signal a significant metabolic imbalance or an underlying health issue.

Carnitine cycle defects, a group of inherited metabolic disorders, can cause the body to improperly use fat for energy, particularly during fasting. Understanding the specific genetic defects in the carnitine cycle is vital for early diagnosis and effective management to prevent severe and life-threatening complications.