Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer

Egyptian Journal of Medical Human Genetics

Table 1 Serum acylcarnitine profile at diagnosis (TMS)

	Acylcarnitines	Values (μmol/L)	Cut-offs^a (μmol/L)	Ratios	Values	Cut-offs^a
1	C 2	10.42	25.0	C3/C0		0.20
2	C 3	0.66	6.00^a	C3/C2		0.20
3	C 3DC	0.02	0.30^a	C3/C16		3.50
4	C 4	0.39	1.30^a	C4/C2		0.10
5	C 4-OH	0.01	0.65^a	C4/C3		0.70
6	C 4DC	0.13	0.63
7	C 5	0.47	0.70^a	C5/C2		0.05
8	C 5-OH	0.12	0.90^a	C5-OH/C2		0.04
9	C 5:1	0.01	0.25^a	C5:1/C2		0.20
10	C 5 DC	0.10	0.35^a	C5DC/C2		0.02
11	C 6	0.75	0.45^a	C5DC/C12
12	C6 OH	0.13	0.35
13	C 8	1.85	0.45^a	C8/C2	0.18	0.03
14	C 10	3.69	0.45^a	C10:1/C2
15	C 10:1	0.26	0.30^a
16	C 10:2	0.02	0.15^a
17	C 12	2.84	0.50
18	C 14	1.58	0.80^a	C14/C2	0.15	0.03
19	C 14:1	0.96	0.60^a	C14:1/C16	0.38	0.30
20	C14:2	0.15	0.15
21	C 16	2.24	7.50^a
22	C 16-OH	0.02	0.15^a	C16-OH/C2		0.01
23	C 18	1.02	2.50^a	C18:1/C2		0.15
24	C 18-OH	0.01	0.10^a
25	C 18: 1	1.58	3.50^a	C18-OH/C2		0.10
26	C 18: 1-OH	0.02	0.16	C18:1OH/C2		0.01
	Total	29.45

Elevated C6, C8, C10, C10:1, C 12, C14, C14:1, suggestive of multiple acyl-CoA dehydrogenase deficiency (GA type II)
^aCDC cut-offs, 2013