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Table 1 Biochemical characterization of the Spanish AIP probands

From: Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP)

Proband/sex Age at diagnosis (years) Erythrocyte HMB-synthase activity (nmol/hr/ml packed erythrocytes) Urine
Porphyrins a ( µ g/24 hr) ALA (mg/24 hr) PB G (mg/24 hr)
1/F 29 20.6 9860 ND ND
2/F 30 14.8 156c 8.1b 4.6b
3/F 26 16.0 864 19.7 10.2
4/F 28 15.0 1390 14.0 9.0
5/F 26 19.6 85b 4.3b 0.4b
6/F 23 25.8 2840 87.3 63.0
7/M 27 23.1 ND ND ND
8/F 34 23.0 479 12.0 9.0
9/F 27 22.8 ND 32.5 56.0
Normal — 34.5 ± 4.7c <200 <7 <2
  1. ND, not determined.
  2. aTotal porphyrins in urine (13).
  3. bUrines were not collected from patient during an acute attack.
  4. cMean ± 1 SD.
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Molecular Medicine

ISSN: 1528-3658