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

Table 1 Organic acids tests in the urine

Number	Organic acids (normal range)
1	Lactic acid -2 (0.0-13.0)	14.2↑
2	Pyruvate-OX-2 (0.0-30.0)	91.7↑
3	2-hydroxyisovaleric acid-2 (0.0-2.0)	7.8↑
4	2-ketoisovaleric acid-OX-2 (0.0-0.3)	1.0↑
5	2-ketoisohexanoic acid-OX-2 (0.0-0.8)	1.7↑
6	Glutaric acid -2 (0.0-8.0)	516.4↑
7	Isoamyl glycine-1 (0.0-1.5)	11.3↑
8	Acetylmalonic acid-2 (0.0-7.0)	17.6↑
9	Methylsuccinic acid-2 (0.0-4.0)	5.5↑
10	Methyl fumaric acid-2 (0.0-2.5)	3.0↑
11	Glutaconic acid-2 (0.0-0.0)	2.2↑
12	Adipic acid-2 (0.0-15.0)	165↑

12 of 70 organic acids were abnormal.

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.