Acute Intermittent Porphyria in Argentina: An Update

Table 2

Biochemical data and mutation status of the family from Paraguay.

Patient	Age	ALA; mg/24 h	PBG; mg/24 h	Porph.; μg/24 h	PPI: 619 nm	HMBS activity	Mutation status
Proband	38	2.7	8.7	188	1.80	44.72	c.772-1 G>A
Mother	67	—	—	—	1.85	46.24	c.772-1 G>A
Husband	62	—	—	—	1.00	61.20	p.R321H
Daughter	23	6.6	32.5	589	1.23	58.06	c.772-1 G>A/p.R321H
Daughter	26	6.1	24.7	782	1.29	31.75	c.772-1 G>A/p.R321H
Daughter	30	1.0	1.2	37	1.00	44.77	p.R321H

Age in years at diagnosis. Porph.: porphyrins.
Normal values: ALA: ≤4 mg/24 h: PBG: ≤2 mg/24 h; porphyrins: 2–250 μg/24 h; Plasma Porphyrin Index (PPI) ≤1.30 (: 619); HMBS activity: 84.51 ± 11.96 U/ml GR (F); 73.13 ± 13.62 U/ml GR (M).