. Author manuscript; available in PMC: 2018 Apr 1.

Published in final edited form as: Mol Genet Metab. 2017 Feb 2;120(4):342–349. doi: 10.1016/j.ymgme.2017.02.002

Table 1.

Summary of functional assays

Enzyme/Complex/Function	Cell	Activity^*
		Case (%mean)	Control
		Case (%mean)	Mean ± SD, n value	Ref. range
PDC-activated	Lymph	0.27 (17%)^**	1.6 ± 0.5, n = 596	1.0–2.7
PDC-activated	FB	2.2 (90%)	2.4 ± 0.9, n= 329	1.3–4.4
KDC	FB	2.1 (100%)	2.1 ± 1.0, n = 42	0.7–4.6
SCEH	FB	<31 (BLQ)	379 ± 145	179–616
OxPhos (pyruvate, malate and ADP)	FB	22 (56%)	39 ± 6, n = 57	30–53
OxPhos (palmitoylcarnitine, malate and ADP)	FB	30 (103%)	29 ± 4, n = 49	22–39

PDC, KDC and SCEH activities were in nmol/min/mg protein, and OxPhox activities were in pmol/sec/million cells.

^**

PDC/E3 = 0.4 (control mean ± SD: 2.3 ± 0.6, RR 1.4–3.6, n = 596).

Lymph, blood lymphocytes; FB, cultured fibroblasts; PDC, pyruvate dehydrogenase complex; KDC, alpha-ketoglutarate dehydrogenase complex; SCEH, short-chain enoyl-CoA hydratase; OxPhos, oxidative phosphorylation – O₂ consumption assayed in digitonin-permeabilized fibroblasts (i.e., intact cellular mitochondria); and BLQ, below limit of quantitation.