Clinical and biochemical characterization of four patients with mutations in ECHS1

Table 1 Palmitate loading test with [U-¹³C] Palmitate in fibroblasts of SCEH deficient patients

Acyl-carnitines	Patient 1	Patient 2	Patient 3	Patient 4	Reference range
	nmol/(96 hr.mg)	nmol/(96 hr.mg)	nmol/(96 hr.mg)	nmol/(96 hr.mg)	nmol/(96 hr.mg)
[U-¹³C] C2	16.75	11.01	21.49	19.88	2.3–43.3
C3	0.42	0.10	0.11	0	0–2.3
[U-¹³C] C4	1.06	0.31	0.43	0.93	0–2.0
C5	0.57	0.20	0.00	0	0–2.5
[U-¹³C] C6	0.31	0.15	0.26	0.78	0–1.4
[U-¹³C] C8	0.31	0.20	0.47	0.82	0.1–2.6
[U-¹³C] C10	0.31	0.26	0.79	0.73	0.2–3.1
[U-¹³C] C12	0.09	0.04	0.14	0.08	0–0.8
[U-¹³C] C14	0.05	0.09	0.05	0.04	0–0.4
[U-¹³C] C16	1.58	0.64	1.04	2.75	0–4.3
C16/C2 ratio	0.10	0.06	0.05	0.14	0–0.32

ISSN: 1750-1172