Table 2.
Review of Biochemically and HMBS Mutation-Confirmed AIP Cases Reporting Symptoms Before Puberty in the Longitudinal Study of the Porphyrias [13]
| Patient Number | HMBS Mutation | Urine PBG at enrollment* (lab range) | Sex | AGE AT | Recurrent Attacks | ||
|---|---|---|---|---|---|---|---|
| Database Enrollment | Symptom Onset | Menarche | |||||
| 1 | c.863_86 4insT | 111.5 mg (0–4) | F | 33 | 3 | 12.5 | Yes |
| 2 | IVS10-2A>G | 29 mg/24 hr (<2.4) | F | 21 | 3 | 10 | Yes |
| 3 | p.R201W | 6 mg/g creat (<2.0) | F | 19 | 5 | 9 | Yes |
| 4 | p.R167Q | 13.3 mg/24 hr (0–0.5) | F | 72 | 8 | 16 | Yes |
| 5 | p.G111R | 3.3 mmol/mol creat (0.09–2.97) | F | 72 | 9 | 11 | Yes |
| 6 | p.R116Q | 16.9 mg (0–4) | F | 41 | 10 | 11 | Yes |
| 7 | p.V267M | 5.2 mg (0–4) | F | 36 | 10 | 11 | No |
| 8 | p.R173W | 8.3 mg (0–4) | M | 53 | 10 | N/A | Yes |
| 9 | p.A33IV | 45 umol/L (0.0–8.8) | F | 59 | 11 | 11 | Yes |
| 10 | c.633_63 4insC | 55.8 mg/g creat (<2.0) | F | 39 | 11 | 11 | Yes |
| 11 | p.A33IV | Not available | F | 39 | 13 | 17 | Yes |
HMBS: Hydroxylmethylbilane Synthase enzymatic activity (also known as Porphobilinogen Deaminase PBGD)
*
Patients were asymptomatic at the time of enrollment in longitudinal study
PBG: Urine porphobilinogen concentration