Inborn Error of Lipid Metabolism - Carnitine Related

Carnitine Related

  • Primary carnitine deficiency - SLC22A5 (carnitine transporter)
  • Carnitine-acylcarnitine translocase deficiency - Carnitine-acylcarnitine translocase
  • Carnitine palmitoyltransferase I deficiency (CPT) - Carnitine palmitoyltransferase I
  • Carnitine palmitoyltransferase II deficiency (CPT) - Carnitine palmitoyltransferase II

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