GeneReviews — Carnitine Palmitoyltransferase II Deficiency

Orphanet ORPHA:157 · OMIM 255110 · OMIM 600650 (gene CPT2) · GARD · NORD

MetabERN · ERN EURO-NMD · U-IMD · INFORM · FOD Family Support Group

• Jerry Vockley — University of Pittsburgh
• Jean-Paul Bonnefont — Necker-Enfants Malades, Parigi
• Stephan Zierz, Marcus Deschauer — Halle-Wittenberg
• John Vissing, Ronni Ørngreen — Rigshospitalet, Copenaghen
• Simon Olpin — Sheffield
• Seiji Yamaguchi — Shimane
• Antonio Toscano — NEMO Sud, Messina

Rhabdomyolysis in the Era of Next-Generation Sequencing — Genes, 2025