Tag: Hypoketotic hypoglycemia

According to the National Institutes of Health, primary carnitine deficiency affects approximately 1 in 100,000 newborns worldwide. A key consequence of carnitine deficiency is the body's inability to effectively transport long-chain fatty acids into mitochondria for energy, leading to a cascade of metabolic problems.

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.

According to the Orphanet Journal of Rare Diseases, plasma free carnitine levels can be extremely reduced, often falling below 5 μM in individuals with systemic primary carnitine deficiency. Understanding the biochemical findings in carnitine deficiency is vital for accurate diagnosis and effective management, which can prevent severe clinical consequences.