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Tag: Slc22a5 mutation

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What is a Primary Carnitine Deficiency? Causes, Symptoms, and Treatment

5 min read
Affecting approximately 1 in 100,000 newborns worldwide, primary carnitine deficiency (PCD) is a rare genetic condition where the body cannot effectively use certain fats for energy, particularly during periods without food. This metabolic disorder can lead to serious health complications if not diagnosed and managed appropriately.