Primary Carnitine Deficiency
from OrphaChat — a Rare Disease Podcast Hosted by RCH
Primary carnitine deficiency is a rare genetic disorder caused by mutations in the SLC22A5 gene, which impairs the body’s ability to transport carnitine into cells for energy production. This condition often leads to metabolic crises, muscle weakness, and potentially fatal heart failure or arrhythmias if left untreated. Many cases are identified through newborn screening, which measures carnitine levels in infants but frequently uncovers asymptomatic mothers with the same defect. While lifelong carnitine supplementation is highly effective at preventing severe symptoms, clinicians face challenges with false positives and interpreting genetic variants of uncertain significance. Ongoing research focuses on improving diagnostic accuracy and understanding why some individuals remain healthy despite having identical genetic markers to symptomatic patients. Treatment compliance is essential, as discontinuing supplements can cause a rapid recurrence of life-threatening cardiac complications.
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