- Cardiolipins
- Carnitine/acylcarnitine transporter (CACT)
- Carnitine biosynthesis intermediates *
- Carnitine palmitoyltransferase 1 (CPT1)
- Carnitine palmitoyltransferase 2 (CPT2)
- Ceramidetrihexoside (CTH, Gb3) *
- C26:0-carnitine
- Chitotriosidase (Gaucher)
- Cholestanol
- C26:0-Lyso-PC (blood)
- C26:0-Lyso-PC (fibroblasts)
- Complementation testing
- Creatine and guanidinoacetic acid