Systemic primary carnitine deficiency
Genetic disorder
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![PDF] 20 Years After Discovery of the Causative Gene of Primary ...](/imgres?imgurl=https://d3i71xaburhd42.cloudfront.net/651ba513a258b0a57dc15c728599dfc387fb11ea/3-Figure1-1.png&imgrefurl=https://www.semanticscholar.org/paper/20-Years-After-Discovery-of-the-Causative-Gene-of-Tang-Hui/651ba513a258b0a57dc15c728599dfc387fb11ea&h=1110&w=1362&tbnid=AHQ_T23H_5usZM&q=Systemic+primary+carnitine+deficiency&tbnh=122&tbnw=150&usg=AI4_-kTSHPGBJQ_Tns3zPQXMnJueM2SrBg&vet=1&docid=0fTSGkHKI45gqM&sa=X&ved=2ahUKEwj00qTTx82FAxXbjokEHe6ECsIQ9QF6BAgAEAQ)
Systemic primary carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Carnitine is an important amino acid for fatty acid metabolism. Wikipedia