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char = d;code = 100
char = a;code = 97
char = t;code = 116
char = e;code = 101
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char = o;code = 111
char = n;code = 110
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char = z;code = 122
char = y;code = 121
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char = e;code = 101
char = f;code = 102
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char = p;code = 112
char = h;code = 104
char = y;code = 121
char = r;code = 114
char = i;code = 105
char = a;code = 97
char = .;code = 46
result sql = Update on enzyme and molecular defects in porphyria.
Update on enzyme and molecular defects in porphyria.
char = E;code = 69
char = a;code = 97
char = c;code = 99
char = h;code = 104
char = ;code = 32
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char = o;code = 111
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char = h;code = 104
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char = i;code = 105
char = a;code = 97
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char = r;code = 114
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char = s;code = 115
char = u;code = 117
char = l;code = 108
char = t;code = 116
char = s;code = 115
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char = f;code = 102
char = r;code = 114
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char = m;code = 109
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char = d;code = 100
char = e;code = 101
char = c;code = 99
char = r;code = 114
char = e;code = 101
char = a;code = 97
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char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
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char = i;code = 105
char = v;code = 118
char = i;code = 105
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char = y;code = 121
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = o;code = 111
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = o;code = 111
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char = ;code = 32
char = t;code = 116
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char = e;code = 101
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char = z;code = 122
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char = f;code = 102
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char = a;code = 97
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char = T;code = 84
char = h;code = 104
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char = b;code = 98
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char = i;code = 105
char = s;code = 115
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char = o;code = 111
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char = e;code = 101
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char = y;code = 121
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char = e;code = 101
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char = i;code = 105
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char = ;code = 32
char = a;code = 97
char = c;code = 99
char = u;code = 117
char = t;code = 116
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char = i;code = 105
char = n;code = 110
char = t;code = 116
char = e;code = 101
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char = m;code = 109
char = i;code = 105
char = t;code = 116
char = t;code = 116
char = e;code = 101
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char = ;code = 32
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char = o;code = 111
char = r;code = 114
char = p;code = 112
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char = y;code = 121
char = r;code = 114
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char = a;code = 97
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char = I;code = 73
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char = ,;code = 44
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char = g;code = 103
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char = y;code = 121
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char = i;code = 105
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char = (;code = 40
char = V;code = 86
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char = ;code = 32
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char = d;code = 100
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char = e;code = 101
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char = r;code = 114
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char = o;code = 111
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char = r;code = 114
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char = (;code = 40
char = C;code = 67
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char = P;code = 80
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char = s;code = 115
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char = d;code = 100
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char = l;code = 108
char = ;code = 32
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char = r;code = 114
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char = e;code = 101
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char = i;code = 105
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char = ;code = 32
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char = h;code = 104
char = o;code = 111
char = w;code = 119
char = ;code = 32
char = e;code = 101
char = x;code = 120
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char = e;code = 101
char = n;code = 110
char = s;code = 115
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = ;code = 32
char = a;code = 97
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char = l;code = 108
char = e;code = 101
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char = i;code = 105
char = c;code = 99
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char = h;code = 104
char = e;code = 101
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char = e;code = 101
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char = o;code = 111
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char = e;code = 101
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char = e;code = 101
char = i;code = 105
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char = y;code = 121
char = .;code = 46
char = ;code = 32
char = I;code = 73
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = u;code = 117
char = t;code = 116
char = o;code = 111
char = s;code = 115
char = o;code = 111
char = m;code = 109
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = d;code = 100
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char = n;code = 110
char = a;code = 97
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char = t;code = 116
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char = d;code = 100
char = i;code = 105
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char = o;code = 111
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char = d;code = 100
char = e;code = 101
char = r;code = 114
char = s;code = 115
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char = A;code = 65
char = I;code = 73
char = P;code = 80
char = ;code = 32
char = a;code = 97
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char = d;code = 100
char = ;code = 32
char = V;code = 86
char = P;code = 80
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char = p;code = 112
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char = e;code = 101
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char = o;code = 111
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char = ;code = 32
char = c;code = 99
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char = r;code = 114
char = e;code = 101
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char = a;code = 97
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char = i;code = 105
char = o;code = 111
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char = s;code = 115
char = ;code = 32
char = h;code = 104
char = a;code = 97
char = v;code = 118
char = e;code = 101
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char = b;code = 98
char = e;code = 101
char = e;code = 101
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char = ;code = 32
char = d;code = 100
char = e;code = 101
char = m;code = 109
char = o;code = 111
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char = s;code = 115
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ,;code = 44
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char = d;code = 100
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = e;code = 101
char = x;code = 120
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char = l;code = 108
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char = a;code = 97
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char = i;code = 105
char = o;code = 111
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char = f;code = 102
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = ;code = 32
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char = o;code = 111
char = w;code = 119
char = ;code = 32
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char = i;code = 105
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char = a;code = 97
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char = ;code = 32
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char = e;code = 101
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char = a;code = 97
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char = c;code = 99
char = e;code = 101
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char = a;code = 97
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char = .;code = 46
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char = a;code = 97
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char = s;code = 115
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char = s;code = 115
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char = i;code = 105
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char = e;code = 101
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char = n;code = 110
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char = l;code = 108
char = i;code = 105
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char = ;code = 32
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = a;code = 97
char = c;code = 99
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char = i;code = 105
char = v;code = 118
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = h;code = 104
char = e;code = 101
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = u;code = 117
char = r;code = 114
char = o;code = 111
char = p;code = 112
char = o;code = 111
char = r;code = 114
char = p;code = 112
char = h;code = 104
char = y;code = 121
char = r;code = 114
char = i;code = 105
char = n;code = 110
char = o;code = 111
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = ;code = 32
char = d;code = 100
char = e;code = 101
char = c;code = 99
char = a;code = 97
char = r;code = 114
char = b;code = 98
char = o;code = 111
char = x;code = 120
char = y;code = 121
char = l;code = 108
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = (;code = 40
char = U;code = 85
char = R;code = 82
char = O;code = 79
char = D;code = 68
char = );code = 41
char = ;code = 32
char = a;code = 97
char = s;code = 115
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = r;code = 114
char = t;code = 116
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = p;code = 112
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = h;code = 104
char = e;code = 101
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = o;code = 111
char = c;code = 99
char = y;code = 121
char = t;code = 116
char = e;code = 101
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = j;code = 106
char = u;code = 117
char = r;code = 114
char = y;code = 121
char = ;code = 32
char = b;code = 98
char = y;code = 121
char = ;code = 32
char = a;code = 97
char = l;code = 108
char = c;code = 99
char = o;code = 111
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = ,;code = 44
char = ;code = 32
char = H;code = 72
char = C;code = 67
char = V;code = 86
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = o;code = 111
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = a;code = 97
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
char = .;code = 46
char = ;code = 32
char = I;code = 73
char = n;code = 110
char = h;code = 104
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = f;code = 102
char = a;code = 97
char = c;code = 99
char = t;code = 116
char = o;code = 111
char = r;code = 114
char = s;code = 115
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = a;code = 97
char = t;code = 116
char = ,;code = 44
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = m;code = 109
char = b;code = 98
char = i;code = 105
char = n;code = 110
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ,;code = 44
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = y;code = 121
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = p;code = 112
char = o;code = 111
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = P;code = 80
char = C;code = 67
char = T;code = 84
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = c;code = 99
char = l;code = 108
char = u;code = 117
char = d;code = 100
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = U;code = 85
char = R;code = 82
char = O;code = 79
char = D;code = 68
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = ,;code = 44
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = b;code = 98
char = o;code = 111
char = u;code = 117
char = t;code = 116
char = ;code = 32
char = 2;code = 50
char = 0;code = 48
char = %;code = 37
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
char = ,;code = 44
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = C;code = 67
char = 2;code = 50
char = 8;code = 56
char = 2;code = 50
char = Y;code = 89
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = h;code = 104
char = a;code = 97
char = e;code = 101
char = m;code = 109
char = o;code = 111
char = c;code = 99
char = h;code = 104
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = a;code = 97
char = t;code = 116
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = (;code = 40
char = H;code = 72
char = F;code = 70
char = E;code = 69
char = );code = 41
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = .;code = 46
char = <;code = 60
char = b;code = 98
char = r;code = 114
char = /;code = 47
char = >;code = 62
result sql = Each porphyria results from decreased activity of one of the enzymes of haem biosynthesis. The molecular basis of enzyme deficiencies in acute intermittent porphyria (AIP), variegate porphyria (VP) and congenital erythropoietic porphyria (CEP) is outlined. All three conditions show extensive allelic heterogeneity. In the autosomal dominant disorders, AIP and VP, no genotype/phenotype correlations have been demonstrated, and the explanation for their low clinical penetrance remains uncertain. In AIP and VP, mutational analysis is superior to biochemical methods for screening families for latent porphyria. In the autosomal recessive condition, CEP, there is some genotype/phenotype correlation--one common mutation (C73R) being associated with severe disease in homozygotes. Porphyria cutanea tarda (PCT) is not a simple monogenic disorder. Patients appear to have an inherited susceptibility to inactivation of hepatic uroporphyrinogen decarboxylase (UROD) as part of a response to hepatocyte injury by alcohol, HCV and other agents. Inherited factors that, in combination, may predispose to PCT include mutations in the UROD gene, present in about 20% of patients, and the C282Y mutation in the haemochromatosis (HFE) gene.

Publication: Photodermatol Photoimmunol Photomed 1998 Apr ;14(2)::66-9.
Publication Date: 1998 Apr
Study Author(s): Elder, G H;
Institution: Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Shortcut link to this study:
Each porphyria results from decreased activity of one of the enzymes of haem biosynthesis. The molecular basis of enzyme deficiencies in acute intermittent porphyria (AIP), variegate porphyria (VP) and congenital erythropoietic porphyria (CEP) is outlined. All three conditions show extensive allelic heterogeneity. In the autosomal dominant disorders, AIP and VP, no genotype/phenotype correlations have been demonstrated, and the explanation for their low clinical penetrance remains uncertain. In AIP and VP, mutational analysis is superior to biochemical methods for screening families for latent porphyria. In the autosomal recessive condition, CEP, there is some genotype/phenotype correlation--one common mutation (C73R) being associated with severe disease in homozygotes. Porphyria cutanea tarda (PCT) is not a simple monogenic disorder. Patients appear to have an inherited susceptibility to inactivation of hepatic uroporphyrinogen decarboxylase (UROD) as part of a response to hepatocyte injury by alcohol, HCV and other agents. Inherited factors that, in combination, may predispose to PCT include mutations in the UROD gene, present in about 20% of patients, and the C282Y mutation in the haemochromatosis (HFE) gene.
PMID: 9638727

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