Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report

Table 2 Serum amino acid and acylcarnitine spectrum of genetic metabolic diseases

Amino acid and acylcarnitine spectrum (normal range)		Amino acid and acylcarnitine spectrum
Palmitoyl carnitine (C16) (0.20-3.50)	4.49↑	C8/C3 (0.01-0.40)	1.20↑
Palmitoyl carnitine (C16:1) (0.02-0.30)	2.22↑	C10/C3 (0.01-0.50)	2.70↑
Palmolive dienyl carnitine (C16:2) (0.01-0.10)	0.31↑	C12/C3 (0.01-0.35)	3.58↑
Octadecyl carnitine (C18:1) (0.20-2.80)	3.80↑	C14/C3 (0.02-0.45)	9.25↑
C3/Mot (0.02-0.30)	0.01↓	C14:1/C8:1 (0.10-6.00)	12.31↑
C3DC/C4 (0.10-1.50)	0.07↓	C16/C2 (0.01-0.20)	0.82↑
C4/C2 (0.00-0.05)	0.08↑	C16/C3 (0.10-3.50)	22.07↑
C4/C3 (0.00-0.70)	2.15↑	C18/C3 (0.05-2.00)	5.44↑
C5/C2 (0.00-0.05)	0.12↑	C16 OH/C3 (0.00-0.15)	0.22↑
C5/C3 (0.00-0.50)	3.20↑	C18 OH/C3 (0.00-0.10)	0.17↑
C5DC/C3 (0.01-0.40)	0.65↑	(C1G+C18:1)/C2 (0.03-0.40)	1.52↑
C6/C3 (0.01-0.30)	0.72↑	C0/(C1G+C18) (6.50-90.00)	1.12↓

24 out of the total 43 tested items were abnormal, revealing the elevation of several acylcarnitines and the reduction of carnitine.