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Table 1 Clinical, laboratory and genetic findings in 24 patients with a mild ZSD

From: High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

  Case Present age,y Age at test,y C26:0 in plasma around time of Synacthen Average C26:0 in plasma* Basal ACTH Basal cortisol /30’/60’ after injection Clinical symptoms Plasma renin levels Phenotype PEXmutation1
Communication Motor function
(0.45-1.32) (0.45-1.32); STD (1-55) (>550) (0-7.5)
Adrenal insuf. 1 6.6 5.9 10.28 7.75; 1.57 100 203 / 275 / 290 asymp 5.5 ++ ++ PEX1 c.2528G > A
2 4.4 2.8 7 6.28; 1.13 180 201 / 254 / 260 asymp 5.5 ++ ++ PEX1 c.2528G > A
3 20.4 18.5 4.63 5.45; 2.47 # 112 / 273 / 306 asymp 5.1 PEX1 c.2528G > A/ c.2097insT
4 8.4 3.0 4.43 4.93; 0.99 # 200 / 260 / 190 v >576 + PEX1 c.2528G > A
5 14.5 12.2 3.38 3.87; 1.37 5140 185 / 203 / 167 hp 4.9 + ++ PEX1 c.2528G > A
6 24.7 22.9 2.73 2.90; 0.78 66 156 / 203 / 202 hp, mp 2.7 ++ PEX26 c.292C > T
7 11.8 10.1 2.28 2.40; 0.34 390 535 / 477 / 524 asym 6.3 + ++ PEX1 c.2528G > A
  8 24.3 24.2 2.44 4.91; 3.98 53 428 / 734 / 781    + PEX1 c.2528G > A
9 24.2 23.8 2.79 4.13; 1.10 44 441 / 624 / 624    + PEX1 c.2528G > A/ unknown
10 6.8 5.8 3.38 3.94; 1.06 nd 370 / nd / 990    PEX1 c.2528G > A
11 10.3 9.1 3.78 3.94; 1.15 17 125 / 458 / 607    PEX1 c.2528G > A/ c.2097insT
12 8.7 8.2 3.21 3.77; 0.69 35 85 / 425 / 557    ++ ++ PEX1 c.2528G > A
13 29.8 29.4 3.7 3.71; 0.78 27 902 / 1079 / 1090    ++ + PEX1 c.2528G > A/ unknown
14 22.8 22.2 3.51 2.69; 1.28 26 306 / 629 / 701    ++ ++ PEX1 c.2528G > A
15 17.3 16.9 2.35 2.45; 0.46 20 270 / 601 / 698    ++ ++ PEX1 c.2528G > A
16 35.0 34.6 3.31 2.17; 0.67 9 342 / 624 / 648    ++ ++ PEX1 c.2528G > A
17 19.0 18.6 1.63 1.82; 0.46 25 430 / 668 / 778    ++ ++ PEX1 c.2528G > A
18 8.1 7.5 1.24 1.78; 0.18 44 571 / 726 / 690    ++ ++ PEX1 c.2528G > A
19 11.8 11.2 1.2 1.53; 0.35 33 189 / 601 / 687    ++ ++ PEX1 c.2528G > A
20 8.3 7.6 0.81 1.50; 0.74 34 588 / 910 / 993    ++ ++ PEX10 c. 1A > G/ c.199C > T
21 29.7 29.3 1.38 1.38; ** nd 215 / 620 / 705    ++ ++ PEX11─ c.64C > T
22 15.4 14.6 1.8 1.38; 0.27 18 227 / 519 / 618    ++ ++ PEX26 c.292C > T
23 30.3 29.9 1.98 1.35; 0.39 19 274 / 579 / 709    ++ ++ PEX1 c.2528G > A
24 16.7 16.1 1.28 1.34; 0.34 17 356 / 593 / 665    ++ ++ PEX1 c.2528G > A
  1. Asym = asymptomatic; hp = hyper pigmentation; mp = muscle pain; nd = not determined; STD = standard deviation, v = vomiting. ACTH in ng/l, cortisol in nmol/l, C26:0 in μmol/l, renin in ugA1/L/U.
  2. The reference intervals are indicated between brackets and all results outside the intervals are depicted in bold.
  3. * = average concentration of C26:0 in plasma during life, ranging from 1 analysis to 43 (median 12) analyses per patient, ** = only one C26:0 measurement, # = unreliable measurement, i.e. loss of ACTH immunoreactivity caused by hemolysis. Phenotype: - = no communication or wheelchair bound, + = non-verbal communication or walk with support, ++ = verbal communication or independent walking. 1 = PEX mutations are homozygous if one sequence is given.