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

Table 1 Biochemical characterization of the Spanish AIP probands

Proband/sex	Age at diagnosis (years)	Erythrocyte HMB-synthase activity (nmol/hr/ml packed erythrocytes)	Urine
Proband/sex	Age at diagnosis (years)		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	156^c	8.1^b	4.6^b
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	85^b	4.3^b	0.4^b
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 ± 4.7^c	<200	<7	<2

ISSN: 1528-3658