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摘要
Objective: The purpose of this study was to analyze a novel pathogenic variant for ornithine transcarbamylase deficiency (OTCD) and to deepen understanding of OTCD. Methods: One case of 14-month-old female OTCD patient was analyzed. Clinical data of the child patient were collected and venous blood 2 ml from the patient and her parents was extracted respectively. The ornithine transcarbamylase (OTC) exons were amplified using PCR amplification. Results: In the clinical symptoms, the patient showed intermittent drowsiness, vomiting, and cerebellar ataxia. According to brain magnetic resonance imaging, the lesion was severe. Blood chemistry showed mild hepatic lesion and increased blood ammonia. According to gas chromatography mass spectrometry assay, there was a rise in urine uracil and urine orotic acid. Genetic sequencing results showed a nonsense mutation was identified in exon 8 of the OTC gene in the proband and her mother, and the gene mutation has never been reported previously. Meanwhile, the phenotype of her mother was normal. Conclusion: Classical OTCD has the symptoms of hyperammonemia and the resulting in varying degrees of damage to the nervous system and the liver. Without clinical specificity, this disease is easily to be misdiagnosed. Methods like blood ammonia and urine metabolic disease screening, blood amino acid analysis and genetic testing help confirm the disease earlier. As for treatment, early intervention and chronic control of blood ammonia level to guard against hyperammonemia will lead to a better curative effect.
- 出版日期2018
- 单位天津市儿童医院; 天津医科大学
