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. 2020 Dec 3;15(1):340.
doi: 10.1186/s13023-020-01606-2.

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Deyun Lu  1 , Feng Han  2 , Wenjuan Qiu  1 , Huiwen Zhang  1 , Jun Ye  1 , Lili Liang  1 , Yu Wang  1 , Wenjun Ji  1 , Xia Zhan  1 , Xuefan Gu  1 , Lianshu Han  3
Affiliations

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Deyun Lu et al. Orphanet J Rare Dis. .

Abstract

Background: This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype.

Methods: Sixty-nine patients with OTCD were enrolled between 2004 and 2019. Clinical and laboratory data were reviewed retrospectively from medical records.

Results: Fifteen cases (13 males, 2 females) presented with early onset; 53 cases (21 males, 32 females) had late onset, and one female was asymptomatic. The median onset age was 1.5 years (range 1 day-56 years). Urine orotic acid levels were increased in all patients tested, while only 47.6% of patients showed decreased serum levels of citrulline. The peak plasma ammonia levels were higher in early-onset patients than in late-onset patients (P < 0.01). Fifty-four different mutations of OTC gene were identified and 18 of them were novel. R277W (10.6%) was the most common mutation, followed by G195R (4.6%) and A209V (3.0%). By June 2019, 41 patients had survived, 24 were deceased, and 4 were lost to follow-up. Among the survivors, 13 patients had received liver transplantation at a median age of 3 years, with a one-year survival rate of 100%. The mortality of OTCD is extremely high among patients with early onset (80.0% versus 24.5% in patients with late onset).

Conclusions: The evaluation of serum citrulline level is of limited value in diagnosis of OTCD, while urine orotic acid detection and genetic testing are more helpful.

Keywords: Gene mutation; Hyperammonemia; OTC; Ornithine transcarbamylase deficiency; Urea cycle disorders.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Age at onset of 68 Chinese patients with OTCD
Fig. 2
Fig. 2
Clinical picture of OTCD patients at the moment of diagnosis
Fig. 3
Fig. 3
Survival rates of different groups. a Survival rates of male and female subjects. b Survival rates of early onset and late onset subjects
See this image and copyright information in PMC

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