From: Genetic and biochemical studies in Argentinean patients with variegate porphyria
Urine | ||||||||||
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Family | Sex | Age | ALA (mg/24 h) | PBG (mg/24 h) | PORPH (ug/24 h) | Blood IPP | Fecal Porph (ug/w) | Symp (C/A) | Mutation/Defect | |
I | P | F | 35 | 2.4 | 2.9 | 1212 | 8.80 | 896 | +/- | c.471G>A/del exon5 |
M | F | 64 | 1.2 | 1.1 | 120 | 1.21 (619) | 70 | -/- | c.471G>A/del exon5 | |
F | M | 64 | 1.4 | 1.1 | 77 | 1.10 (619) | 80 | -/- | ------- | |
Si | F | 27 | 1.2 | 2.4 | 1975 | 9.20 | 371 | +/- | c.471G>A/del exon5 | |
II | P | F | 45 | 4.8 | 6.9 | 1510 | 9.71 | 659 | +/+ | c.807 G>A/r.spl? |
III | P | F | 35 | 9.2 | 21.6 | 4032 | 7.80 | 485 | +/+ | c.808-1G>C/r.spl? |
C | F | 28 | 1.1 | 0.8 | 97 | 1.70 | 127 | -/- | c.808-1G>C/r.spl? | |
C | F | 33 | ND | ND | ND | ND | ND | -/- | c.808-1G>C/r.spl? | |
IV | P | F | 40 | 2.5 | 4.2 | 1814 | 6.50 | 2078 | +/+ | c.338+3insT/r.spl? |
V | P | F | 26 | 1.3 | 1.6 | 149 | 10.40 | 2411 | +/- | c.101A>T/p.E34V |
Si | F | 31 | 1.2 | 2.1 | 539 | 6.00 | 1208 | +/- | c.101A>T/p.E34V | |
VI | P | F | 16 | 8.0 | 18.5 | 2619 | 10.12 | ND | -/+ | c.101A>T/p.E34V |
VII | P | F | 28 | 2.0 | 1.9 | 948 | 8.00 | 428 | -/+ | c. 995 G>C/pG332A |
F | M | 60 | 1.6 | 2.0 | 30 | 1.12 (619) | 78 | -/- | c. 995 G>C/pG332A | |
D | F | 8 | 0.6 | 0.9 | 82 | 1.10 (619) | 85 | -/- | ------- | |
Si | F | 25 | 2.6 | 2.0 | 5 | 2.28 | 271 | -/- | c. 995 G>C/pG332A | |
A | F | 57 | 1.7 | 2.2 | 52 | 4.27 | 52 | -/+ | c. 995 G>C/pG332A | |
C | F | 21 | 0.6 | 0.9 | 30 | 1.24 (619) | 79 | -/- | ------- | |
C | F | 15 | 1.2 | 0.9 | 40 | 1.28 (619) | 85 | -/- | c. 995 G>C/pG332A | |
A | F | 89 | ND | ND | ND | ND | ND | -/- | ------- | |
VIII | P | F | 40 | 2.4 | 4.2 | 874 | 5.50 | 1030 | +/+ | c.670T>G/p.W224R |
D | F | 17 | 1.4 | 1.3 | 2 | 1.30 (619) | ND | -/- | ------- | |
D | F | 15 | 0.9 | 1.4 | 34 | 1.28 (619) | ND | -/- | c.670T>G/p.W224R | |
A | F | 45 | 2.5 | 2.3 | 450 | 11.77 | 893 | +/+ | c.670T>G/p.W224R | |
C | F | 23 | 1.4 | 1.5 | 25 | 1.06 (619) | 307 | -/- | ------- | |
IX | P | M | 49 | 1.8 | 1.8 | 2291 | 10.00 | 2102 | +/- | c.133delT/S45fsX67 |
X | P | F | 28 | 1.4 | 2.6 | 330 | 13.5 | 688 | +/+ | c.925delA/p.I309fsX314 |
XI | P | F | 37 | 1.2 | 3.2 | 801 | 12.6 | 1314 | -/+ | C.694 G>C/G232R |
XII | P | M | 29 | 6.5 | 7.7 | 765 | 4.60 | 250 | -/+ | c.1082insC/p.S359fsX377 |
Si | F | 35 | 3.6 | 3.2 | 742 | 4.20 | 230 | -/+ | c.1082insC/p.S359fsX377 | |
D | F | 16 | 0.5 | 1.4 | 25 | 1.30 | ND | -/- | ------- | |
Ni | F | 18 | 1.1 | 2.1 | 158 | 1.30 (616) | ND | -/- | c.1082insC/p.S359fsX377 | |
XII | P | F | 38 | 1.6 | 2.7 | 985 | 5.50 | 2913 | +/+ | 1043InsT/Y348fsX349 |
XIV | P | M | 29 | 2.3 | 9.0 | 2375 | 7.25 | 1197 | +/- | 1043InsT/Y348fsX349 |
XV | P | M | 24 | 4.9 | 3.3 | 1355 | 17.50 | 2141 | +/- | 1043InsT/Y348fsX349 |
B | M | 23 | ND | ND | ND | 2.16 | ND | -/- | 1043InsT/Y348fsX349 | |
Si | F | 31 | ND | ND | ND | 1.20 (619) | ND | -/- | ------- | |
XVI | P | F | 39 | 12.7 | 36.3 | 1202 | 9.22 | 936 | +/+ | 1043InsT/Y348fsX349 |
XVII | P | F | 28 | 8.9 | 14.5 | 3502 | 5.30 | 1739 | +/+ | 1043InsT/Y348fsX349 |
XVIII | P | F | 28 | 5.7 | 24.0 | 3527 | 13.50 | ND | -/+ | 1043InsT/Y348fsX349 |
XIX | P | F | 37 | 6.1 | 8.7 | 1321 | 11.50 | 964 | +/- | 1043InsT/Y348fsX349 |
D | F | 10 | 1.2 | 1.5 | 87 | 1.25 | ND | -/- | 1043InsT/Y348fsX349 | |
D | F | 13 | 1.4 | 1.1 | 65 | 1.23 | ND | -/- | ------- | |
So | M | 6 | 1.0 | ND | 64 | 1.30 (618) | ND | -/- | ------- | |
Si | F | 34 | ND | ND | ND | 1.18 (618) | ND | -/- | 1043InsT/Y348fsX349 | |
XX | P | F | 33 | 2.0 | 4.0 | 1045 | 8.80 | 616 | +/- | 1043InsT/Y348fsX349 |
M | F | 59 | 1.5 | 3.1 | 390 | 7.30 | 515 | +/- | 1043InsT/Y348fsX349 | |
D | F | 13 | 1.3 | 2.0 | 96 | 1.30 | 92 | -/- | ------- | |
So | M | 8 | ND | ND | ND | ND | ND | -/- | ------- | |
B | M | 29 | ND | ND | ND | ND | ND | -/- | ------- | |
XXI | P | F | 50 | 1.3 | 2.3 | 2364 | 6.00 | 1376 | +/+ | 1043InsT/Y348fsX349 |
XXII | P | F | 29 | 1.5 | 3.7 | 317 | 11.20 | 1329 | +/- | 1043InsT/Y348fsX349 |
M | F | 60 | 1.2 | 2.0 | 26 | 1.25 (619) | 36 | -/- | ------- | |
D | F | 17 | ND | ND | ND | ND | ND | -/- | 1043InsT/Y348fsX349 | |
D | F | 16 | ND | ND | ND | ND | ND | -/- | ------- | |
Si | F | 22 | 1.4 | 2.0 | 67 | 1.25 (619) | ND | -/- | 1043InsT/Y348fsX349 | |
Si | F | 35 | 1.1 | 1.5 | 38 | 1.06 (619) | ND | -/- | ------- | |
Si | F | 35 | 3.2 | 2.4 | 529 | 1.60 (619) | 548 | +/- | 1043InsT/Y348fsX349 | |
Ni | F | 15 | ND | ND | ND | 5.33 | ND | -/- | 1043InsT/Y348fsX349 | |
Ni | F | 10 | ND | ND | ND | 1.90 | ND | -/- | 1043InsT/Y348fsX349 | |
Ni | F | 15 | ND | ND | ND | 1.28 (619) | ND | -/- | ------- | |
C | F | 42 | 2.2 | 1.9 | 47.5 | 1.25 | 46 | -/- | ------- | |
XXIII | P | F | 24 | 6.4 | 8.2 | 1108 | 7.10 | 1529 | +/+ | c.503G>A/p.R168H |
So | M | 18 | 1.1 | 1.2 | 35 | 1.15 (619) | ND | -/- | c.503G>A/p.R168H | |
So | M | 16 | 2.0 | 1.5 | 31 | 1.02 (619) | ND | -/- | ------- | |
So | M | 19 | 0.9 | 0.6 | 86 | 120 | ND | -/- | c.503G>A/p.R168H | |
Si | F | 35 | ND | ND | ND | 3.15 | 1281 | +/- | c.503G>A/p.R168H | |
XXIV | P | F | 4 | 2.8 | 6.2 | 488 | 7.00 | 1705 | +/- | C.745delG/V251fsX272 |
M | F | 30 | 1.9 | 2.9 | 65 | 3.20 | 563 | +/- | C.745delG/V251fsX272 | |
A | F | 28 | 3.0 | 2.0 | 114 | 5.33 | 2491 | +/- | C.745delG/V251fsX272 | |
XXV | P | F | 27 | 3.1 | 4.0 | 870 | 5.40 | 1592 | +/- | c.532T>G/p.L178V |
XXVI | P | F | 39 | 4.4 | 6.2 | 307 | 5.33 | 1214 | +/- | c.317A>C/p.H106P |