Table 1.

Participant Characteristics

Subject	Dx	Gene	Mutation	Residual Enzyme Activity in Cultured Fibroblasts	Age (yrs)	Gender	BMI
1	VLCAD	ACADVL #609575	Not identified	0% of control VLCAD activity*	20	F	31.3
2	LCHAD	HADHA #600890	c. 1528G>C/ c.1528G>C		17	F	27.8
3	LCHAD	HADHA #600890	c. 1528G>C/ c.1528G>C	11.8** mol/min/mg protein	14	M	19.3
4	LCHAD	HADHA #600890	c.1528G>C/ c.1678C>T		16	M	23.8
5	LCHAD	HADHA #600890	c. 1528G>C/ c.1528G>C		7	M	16.6
6	CPT2	CPT2 #600650	Not available	20% of control CPT2 activity*	37	F	29.9
7	LCHAD	HADHA #600890	c. 1528G>C/ c.2102A>G		7	M	19.2
8	LCHAD	HADHA #600890	c. 1528G>C/ c.1528C>T		16	F	22.6
9	LCHAD	HADHA #600890	c.1528G>C/exon 3 splice A+3G		9	M	27.4
10	CPT2	CPT2 #600650	common mutations not detected***	0.060**** nmol/min/mg protein*	17	F	22.7
11	LCHAD	HADHA #600890	c.1528G> C/ c.1132C>T		8	M	18.8

Dx = diagnosis; VLCAD = very long-chain acylCoA dehydrogenase deficiency; LCHAD = long-chain 3-hydroxyacylCoA dehydrogenase deficiency; CPT2= Carnitine Palmitoyltransferase 2 deficiency; Gene = specific gene with disease associated mutations & OMIM #; yrs = years; F = Female; M = male; BMI = body mass index (weight in kilograms/ (height in meters)²)

^*diagnosis confirmed by disease specific change in acylcarnitines during bouts of rhabdomyolysis

^**reference range for normal LCHAD activity = 43.6–89.9 nmol/min/mg protein

^***common mutations = p. 113S>L, p. 50P>H and p. 413 Q >fs; fs= frame shift

^****reference range for normal CPT 2 activity: 0.07 – 0.21 nmol/min/mg protein