Table 3.

List of enzymatic and molecular tests as available for the mitochondrial beta-oxidation deficiencies

Enzyme	Enzymatic testing			Molecular testing
	Lymphocytes		Fibroblasts
	Fresh	Frozen
1. Plasma membrane carnitine transporter (OCTN2)	+	–	+	+
2. Carnitine palmitoyltransferase 1 (CPT1)	+	–	+	+
3. Mitochondrial carnitine/acylcarnitine translocase (CACT)	+	–	+	+
4. Carnitine palmitoyltransferase 2 (CPT2)	+	+	+	+
5. Very-long-chain acyl-CoA dehydrogenase (VLCAD)	+	+	+	+
6. Medium-chain acyl-CoA dehydrogenase (MCAD)	+	+	+	+
7. Short-chain acyl-CoA dehydrogenase (SCAD)	+	+	+	+
8. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)	+	+	+	+
9. Isolated long-chain 3-ketothiolase (LCKAT)	+	+	+	+
10. Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD)	+	+	+	+
11. Medium-chain 3-ketoacyl-CoA thiolase (MCKAT)	–	–	+	–
12. ETF dehydrogenase (ETFDH)	–*	–*	–*	+
13. ETF-alpha (ETFα)	–*	–*	–*	+
14. ETF-beta (ETFβ)	–*	–*	–*	+

+ Test available in our laboratory; – test not available in our laboratory; for more details see: www.labgmd.nl, –* test available in other laboratories (see text)