Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
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RESEARCH
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency Deyun Lu1†, Feng Han2†, Wenjuan Qiu1, Huiwen Zhang1, Jun Ye1, Lili Liang1, Yu Wang1, Wenjun Ji1, Xia Zhan1, Xuefan Gu1 and Lianshu Han1*
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 30 days) or asymptomatic. The major symptoms include vomiting, apastia, lethargy, convulsion, muscle hypotonia, and coma. These symptoms can be precipitated or aggravated by high protein meals, fasting, infections, trauma, surgery, or childbirth [8]. The survival rate is 70–90% among female patients, and 50–60% among male patients [9–11]. Here, we report on the clinical and biochemical features, as well as molecular characteristics of 69 unrelated Chinese OTCD patients. As such, we aimed to summarize the mutation spectrum of the OTC gene in Chinese patients and analyze the relationship between phenotype and genotype.
Materials and methods Patients
In this study, 69 unrelated patients (34 males and 35 females) diagnosed with OTCD were recruited between 2004 and 2019. The diagnosis of OTCD was based on clinical features, specific biochemical criteria (high blood ammonia, high plasma glutamine, low plasma citrulline, and high urinary excretion of orotic acid), as well as molecular analysis. Clinical manifestations and courses, as well as biochemical data were collected and reviewed retrospectively from medical records. Biochemical detection
The quantification of blood amino acids was tested by tandem mass spectrometry (MS/MS; Applied Biosystems, API 4000, California, United State) on dried blood spots [12]. The levels of urinary organic acids were measured by gas chromatography -mass spectrometry (GC– MS; Shimadzu Limited, QP2010, Kyoto, Japan) [13]. Molecular analysis of the OTC gene
After obtaining informed consent, 2 ml of peripheral blood was drawn from the patients and their parents. Samples from 66 unrelated patients were used for OTC molecular tests. The other 3 patients (P11-13) could not be included in the analysis as they died of acute hyperammonemic encephalopathy shortly after birth, so samples from their mothers were used for genetic test. Genomic DNA was extracted from peripheral blood
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