Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

Table 4 Personalised parameters based on fibroblast proteomics data

Phenotype	Person	V_max,VLCAD	V_max,MCAD^a	V_max,SCAD^b	V_max,MCKAT	V_max,MTP	Total ETF
Unit		μmol.min⁻¹.mg-mitochondrial-Protein⁻¹					μM
Default		0.076	0.038	0.01668	2.98	0.167	46.0
Control	C103	0.042	0.037	0.01668	2.82	0.178	27.4
	C104	0.066	0.025	0.01668	1.78	0.088	39.8
	C105	0.104	0.059	0.01668	5.32	0.243	65.2
	C106K	0.110	0.030	0.01668	2.92	0.187	57.5
	C106W	0.032	0.038	0.01668	2.07	0.122	28.0
Symptomatic	P1	0.044	0	0.01668	2.41	0.132	24.7
	P5	0.118	0	0.01668	2.22	0.145	48.0
	P7	0.059	0	0.01668	4.74	0.181	44.5
	P8	0.094	0	0.01668	3.88	0.258	52.5
Early diagnosis	P2	0.069	0	0.01668	2.73	0.159	39.4
	P3	0.058	0	0.01668	1.32	0.097	35.7
	P4	0.121	0	0.01668	4.02	0.252	65.7
	P6	0.094	0	0.01668	4.03	0.193	70.8
	P9	0.096	0	0.01668	2.12	0.166	48.9
Asymptomatic	P10	0.096	0	0.02776	3.22	0.257	43.6

^aV_max,MCAD activity was set to zero in all MCADD patients
^bV_max,SCAD was set to the default value for all patients except P10, since the measurements were too close to the limit of detection to be precisely quantified. For P10, however, the SCAD concentration could be concluded to differ from the other persons in the cohort and was adapted

ISSN: 1741-7007