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Table 3 Clinical presentations, biochemical, and genetic investigations of ten Chinese patients with citrullinemia type 1

From: Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

Patient no. Gender Age of onset Clinical presentation Citrulline levels (μmol/L)a Blood ammonia (μmol/L)b Mutaion 1 Mutaion 2 Outcome Ref.
Location c.DNAc Protein Location c.DNA Protien
1 Male 3 y Mild form 90.05 70 Intron 11 c.773 + 4A > C   Intron 11 c.773 + 4A > C   Well This study
2 n.a. 2 d Neonatal form 487.69 286 Exon 6 c.380G > A p.Arg127Gln Exon 6 c.380G > A p.Arg127Gln Died [12]
3 Male n.p. Mild form 961.42 91 Intron 4 c.174 + 1G > A   Exon 7 c.422 T > C p.Val141Gly Well [13]
4 Female 4 d Neonatal form 1085.41 231 Intron 11 c.773 + 1G > A   Exon 12 c.793C > T p.Arg265Cys Moderate [13]
5 Female 3 m Late-onset form n.a. 311 Exon 7 c.431C > G p.Pro144Arg Exon 14 c.1087C > T p.Arg363Trp Moderate [17]
6 Male n.p. Mild form 111.21 17 Exon 3 c.53C > T p.Ser18Leu Exon 15 c.1168G > A p.Gly390Arg Well [16]
7 Female 1 y, 3 m Late-onset form 928.77 160 Exon 13 c.847G > A p.Glu283Lys Exon 14 c.1009 T > C p.Cys337Arg Moderate [10]
8 Female 1 y, 5 m Late-onset form 653 126 Exon 5 c.236C > T p.Ser79Phe Exon 7 c.431C > G p.Pro144Arg n.a. [14]
9 Female 2 d Neonatal form 1577.7 670 Exon 13 c.951delT p.F317LfsX375 Exon 14 c.1087C > T p.Arg363Trp Died [11]
10 Male 2 d Neonatal form 2513.5 n.a. Exon 13 c.970G > A p.Gly324Ser Exon 13 c.970G > A p.Gly324Ser n.a. [15]
  1. aReference range: 5.5–30 μmol/L; b Reference range: 10–47 μmol/L; c novel mutations are in bold character
  2. n.p. not present, n.a. not available, d day, y year