Table 1.
Principal features of 48 hereditary fructose intolerance (HFI) patients and their daily fructose intake.
| n | Sex | Age at Diagnosis (year) | Observation Period (year) | Symptoms at Onset | Liver Signs at Onset |
Aldo B Mutation | Fructose Intake mg/day |
|---|---|---|---|---|---|---|---|
| 1 * | M | 0.3 | 4.9 | - | B | p.A175D/p.A175D | 0 |
| 2 | M | 0.9 | 7.6 | 1 | A-B | p.A175D/p.A175D | 0 |
| 3 | F | 0.6 | 21.1 | 2-4 | A-B | p.A175D/p.Y204 * | 165 |
| 4 | F | 1.1 | 14.9 | 1 | A-B | p.A175D/p.A175D | 223 |
| 5 | M | 0.8 | 9.7 | - | A-B | p.Y204 */p.Y204 * | 354 |
| 6* | M | 0.8 | 13.9 | 2-3-4 | A-B | p.A150P/p.A175D | 223 |
| 7 | M | 2 | 14.6 | 4 | A-B | p.A150P/p.A175D | 223 |
| 8 | F | 0.6 | 19.2 | 1 | A-B | p.A175DP/p.A175D | 137 |
| 9 | M | 1 | 14.2 | 2 | B | p.A150P/p.A150P | 67 |
| 10 | M | 0.9 | 6.6 | 2-4 | - | p.A150P/p.A175D | 35 |
| 11 | M | 0.9 | 10.5 | 1 | A-B | p.A150P/p.A175D | 723 |
| 12 | F | 1.5 | 11.9 | 2-4 | A | p.A150P/p.A150P | 223 |
| 13 | F | 2.2 | 11.7 | 1 | A-B | p.A150P/p.A150P | 223 |
| 14 * | F | 0 | 7.2 | - | A-B | p.A150P/p.A150P | 91 |
| 15 | M | 2.2 | 19.8 | 1 | A-B | p.N120Kfs */p.N120Kfs * | 91 |
| 16 | M | 1 | 4.3 | 1 | A-B | p.A175D/p.L289Ffs * | 45 |
| 17 | F | 3 | 16.5 | 1 | A-B | p.L257P/p.N335K | 40 |
| 18 | F | 18.5 | 4.5 | 1-4 | B | p.A150P/p.A150P | 104 |
| 19 * | M | 0 | 17 | 1-2-3 | B | p.A150P/p.A150P | 253 |
| 20 | F | 4 | 18.2 | 1 | - | p.A175D/-? | 270 |
| 21 | M | 1 | 6.6 | 1 | A-B | p.A150P/p.A150P | 160 |
| 22 | F | 3 | 13.2 | 1 | B | p.A175D/p.A175D | 163 |
| 23 * | F | 0 | 9.8 | - | B | p.Y204 */p.Y204 * | 154 |
| 24 | F | 0.5 | 16.3 | 1 | B | p.A175D/p.Y204 * | 109 |
| 25 * | M | 0 | 12.1 | - | - | p.A150P/p.A175D | 223 |
| 26 | M | 2.1 | 4.3 | 1 | A-B | p.A175D/p.A175D | 46 |
| 27 | F | 0.6 | 6.9 | 1-3 | A-B | p.A150P/p.A150P | 91 |
| 28 | M | 0.7 | 6.3 | 4 | A-B | p.A150P/p.Y204 * | 325 |
| 29 | F | 10.8 | 15.2 | - | B | p.A150P/p.Y204 * | 198 |
| 30 | F | 1 | 11.4 | 1 | B | p.A150P/p.A175D | 247 |
| 31 | F | 4.7 | 5.6 | 1-2 | - | p.A150P/p.A175D | 91 |
| 32 * | M | 0.2 | 8.6 | - | - | p.A150P/p.A175D | 91 |
| 33 | F | 0.5 | 4.2 | 2-4 | - | p.A150P/p.A175D | 0 |
| 34 | F | 0.3 | 6.7 | 2-4 | - | p.Y204 */p.N335K | 46 |
| 35 | F | 0.3 | 3.2 | 2-4 | B | p.A150P/p.A150P | 182 |
| 36 | M | 0.5 | 24.5 | 1-2-3 | - | p.A150P/p.A150P | 650 |
| 37 | F | 12 | 3.5 | 2 | - | p.Y204 */p.Y204 * | 110 |
| 38 | F | 7.5 | 4 | 2 | - | p.A150P/p.A150P | 91 |
| 39 | M | 5 | 4.1 | 1 | A-B | p.A150P/p.A175D | 6 |
| 40 | M | 1.3 | 5 | 4 | A-B | p.A150P/c.1_624del | 181 |
| 41 | M | 4 | 1.8 | 1 | B | p.A150P/p.A150P | 46 |
| 42 | M | 0.7 | 16.9 | - | A-B | p.A150P/p.A150P | 137 |
| 43 | M | 0.7 | 14.8 | - | B | p.A150P/p.A150P | 199 |
| 44 | F | 8 | 4 | 2 | - | p.A175D/p.L289Ffs * | 235 |
| 45 | F | 2 | 10.2 | 1 | A-B | p.A150P/p.A175D | 434 |
| 46 | M | 0.7 | 11.4 | 1-2-4 | A-B | p.A175D/p.L229P | 91 |
| 47 | F | 3 | 10.2 | 1 | - | p.A150P/p.N120Kfs * | 110 |
| 48 | F | 5.5 | 6.2 | 1 | A-B | p.A175D/p.N335K | 206 |
* older sibling affected. 1 sweet aversion; 2 vomit; 3 diarrhea, 4 hypoglycemia; A hypertransaminasemia, B US diagnosis of liver steatosis. M = male, F = female.