Tag: Slc22a5 gene

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.

Primary carnitine deficiency affects approximately 1 in 100,000 newborns worldwide. Understanding how do you get carnitine deficiency involves recognizing a range of causes, from inherited gene mutations that prevent cellular uptake to acquired issues resulting from metabolic diseases, organ failure, or certain medications.

According to MedlinePlus Genetics, primary carnitine deficiency affects approximately 1 in 100,000 newborns worldwide. A deficiency in levocarnitine can arise from both inherited and acquired conditions, impacting the body's ability to turn fat into energy.