Table 1 Data from 12 adolescent and adult patients with PTPS deficiency
From: Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
No | Sex | Age (years) | Phea (µM) | Tyra (µM) | Mean prolactin (ng/mL) | Peak prolactin (ng/mL) | Genotype | Sapropterin dihydrochlorideb | Levodopab | 5-HTPb |
|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 31.0 | 76.9 | 111 | 143.6 | 375.0 | c.155G > A ho | 2.8 | 11.2 | 0.0 |
2 | F | 20.7 | 60.8 | 91.4 | 54.7 | 89.4 | c.155G > A ho | 6.3 | 14.8 | 4.2 |
3 | F | 27.9 | 67.6 | 81.2 | 31.1 | 66.4 | c.155G > A ho | 3.0 | 6.0 | 3.0 |
4 | F | 27.5 | 96.7 | 78.2 | 8.5 | 37.8 | c.259C > T, c.286G > A com he | 1.3 | 8.9 | 3.8 |
5 | F | 27.5 | 71.7 | 76.2 | 73.1 | 195.7 | c.155G > A ho | 2.0 | 11.8 | 2.9 |
7 | M | 26.6 | 100.0 | 98.4 | 22.5 | 87.1 | c.73C > G, c.259C > T com he | 2.2 | 9.0 | 4.5 |
8 | M | 30.5 | 73.0 | 89.6 | 31.6 | 69.4 | c.155G > A ho | 3.3 | 13.1 | 4.9 |
9c | F | 14.5 | 122.0 | 189.0 | 73.2 | 321.4 | c.155G > A, c.314 + 1G > A com he | 4.4 | 17.6 | 8.8 |
10c | F | 27.9 | 60.6 | 134.0 | 127.2 | 302.1 | c.155G > A ho | 4.1 | 14.3 | 6.1 |
11 | M | 14.2 | 87.9 | 93.5 | 4.9 | 59.7 | c.259C > T, c.331G > A com he | 4.5 | 7.5 | 2.9 |
12 | F | 20.6 | 114.0 | 284.0 | 11.8 | 42.7 | c.259C > T, c.286G > A com he | 5.3 | 13.2 | 6.6 |
13d | M | 31.4 | N.A | N.A | N.A | 22.5 | c.155G > A ho | N.A | N.A | N.A |
Median | 27.5 | 76.9 | 93.5 | 3.3 | 11.8 | 4.4 | ||||
IQR | 7.9 | 28.7 | 37.1 | 2.0 | 4.8 | 2.6 |