Table 1 The clinical characteristics and variants of 12 OTCD patients
Patient NO. | Gender | Age at diagnosis | Type | Clinlcal symptom | OTC Variant Amino acid changes | Clinlcal outcomes |
|---|---|---|---|---|---|---|
01 | M | 1D | EO | Hyperammonemia, Hypotonia, Convulsion, Dyspnea | c.512 A > G p.Q171R | Death |
02 | M | 1D | EO | Hyperammonemia, Coma, Hypotonia | c.867 + 1 G > C | Death |
03 | M | 7D | EO | Vomit, Hypotonia, Convulsion, Dyspnea, Coma | c. 782T > C p. I261T | Death |
04 | F | 2Y | LO | Abnormal liver function, Vomit | c.103insA p.V35SerfsX7 | Death |
05 | M | 2D | EO | Convulsion, Coma, Dyspnea | c.274 C > T p.R92R* | Death |
06 | M | 2Y6M | AS | Asymptomatic | c.119G > A p.R40H | Alive |
07 | F | 12Y | LO | Dystropy, Breathing attack | c.968T > G p.V323G△ | Alive |
08 | M | 8D | EO | Hyperammonemia, Metabolic disorder | c. 959G > C p. R320P△ | Missing |
09 | M | 1 M | EO | Hyperammonemia, Metabolic disorder | c.717 + 1G > T | Alive |
10 | M | 5D | EO | Hyperammonemia, Cyanosis | c.674 C > T p.P225L | Death |
11 | M | 1D | EO | Family history, Hyperammonemia | c.143T > C p.F48S | Death |
12 | M | 3D | EO | Hyperammonemia, Vomit, Coma | c.421 C > T p.R141* | Death |