Table 2.

Demographic data and molecular findings of 18 patients with citrin deficiency.

Subject	Gender	Birth weight (kg)	Gestation at birth	Age at presentation	Mutation 1	Mutation 2
1	M	3	40w	9y	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
2	M	2.6	37w5d	4y	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
3	F	2.9	38w3d	33d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
4	M	2.85	39w	35d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
5	M	3.485	40w	34d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
6	F	2.35	39w2d	35d	c.852_855delTATG (p.Met285Profs*2)	c.754 + 6 T > G (IVS7 + 6 T > G)
7	F	3.19	39w6d	47d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
8	F	2.07	32w	4 m	c.852_855delTATG (p.Met285Profs*2)	c.1750+72_1751-4dup17insNM_138459.3:2667
9	F	2.8	38w5d	3 m	c.852_855delTATG (p.Met285Profs*2)	c.284C > A (p.Ala95Asp)
10	F	2.61	39w	2 m	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
11	F	2.2	37w5d	2 m8d	c.852_855delTATG (p.Met285Profs*2)	c.1750+72_1751-4dup17insNM_138459.3:2667
12	F	2.65	38w	32d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
13	F	2.85	39w	48d	c.852_855delTATG (p.Met285Profs*2)	c.640C > T (p.Gln214*)
14	F	2.13	37w5d	84d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
15	F	2.822	38w	64d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
16	M	2.6	38w3d	39d	c.852_855delTATG (p.Met285Profs*2)	c.1638_1660dup23 (p.Ala554Glyfs*17)
17	F	3.12	40w	35d	c.852_855delTATG (p.Met285Profs*2)	c.852_855delTATG (p.Met285Profs*2)
18	F	2.59	39w5d	31d	c.852_855delTATG (p.Met285Profs*2)	c.1638_1660dup23 (p.Ala554Glyfs*17)