Table 4. Mutation and Onset in XLP Male and Female Patients.

Age, y	Mutation	Time to First Symptom	Age at Onset, y	Baseline ePPIX, µg/dL	Metal-Free/Zinc PPIX, %/%
Male
20s	c.1737delG	11-30 min	8	1846	60/40
20s	c.1706_1709delAGTG	<10 min	3	4401	64/36
30s	c.1706_1709delAGTG	11-30 min	1.5	2948	66/34
50s	c.1706_1709delAGTG	11-30 min	4	3711	86/14
50s	c.1706_1709delAGTG	11-30 min	5	7801	89/11
50s	c.1706_1709delAGTG	11-30 min	<1	2293	59/41
50s	c.1706_1709delAGTG	11-30 min	<1	1994	NA
60s	c.1706_1709delAGTG	11-30 min	1	3431	85/15
60s	c.1706_1709delAGTG	11-30 min	1	3437	73/27
60s	c.1706_1709delAGTG	<10 min	<1	10 650	78/22
Female
20s	Q548X	11-30 min	2	5156	89/11
20s	Q548X	11-30 min	11	7544	93/7
20s	c.1706_1709delAGTG	31-60 min	4	2307	69/31
30s	c.1706_1709delAGTG	31-60 min	<1	2350	70/30
30s	c.1706_1709delAGTG	<10 min	9	7867	NA
30s	c.1706_1709delAGTG	>3 h	20	760	NA
40s	c.1737delG	>3 h	17	201	88/12
40s	c.1706_1709delAGTG	11-30 min	<1	6260	86/14
50s	c.1706_1709delAGTG	<10 min	13	2098	67/33
50s	c.1737delG	No symptoms	NA	379	53/47
50s	c.1706_1709delAGTG	1-3 h	40	1420	69/31
50s	c.1706_1709delAGTG	11-30 min	10	2800	79/21

Abbreviations: ePPIX, erythrocyte protoporphyrin; NA, not available; XLP, X-linked protoporphyria.

SI conversion factor: To convert protoporphyrin to µmol/L, multiply values by 0.0178.