Feng Han1, Lianshu Han2, Jun Ye1, Wenjuan Qiu1, Huiwen Zhang1, Xiaolan Gao1, Yu Wang1, Zhuwen Gong1, Jing Jin1, Xuefan Gu1. 1. Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China. 2. Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China. Email: xhhanls@163.com.
Abstract
OBJECTIVE: To explore the clinical manifestations and biochemical characteristics of patients with ornithine transcarbamylase deficiency (OTCD) so as to increase the clinician awareness for this disease. METHODS: The clinical manifestations, blood ammonia levels, citrulline levels, urinary orotic acid and uracil levels were analyzed for 40 patients with OTCD from 2005 to 2013. And comparisons were made with 25 healthy children. RESULTS: Among them, the median age of onset was 1.4 years (3 days-29 years). The major clinical manifestations were feeding difficulties, persistent vomiting, convulsions, unconsciousness and hyperammonemia, etc. The blood levels of citrulline in these patients were significantly lower than those of the control group (6.35 (1.84-21.11) vs 13.65 (10.23-24.52) µmol/L, P < 0.05) . The urinary levels of orotic acid and uracil in these patients were significantly higher than those in the control group (167.77 (1.21-1 650.45) vs 0.25 (0-2.32) mmol/molCr, 52.67 (3.50-338.64) vs 0.69 (0-2.87) mmol/molCr, P < 0.05) . CONCLUSION: For patients with hyperammonemia, the decreased levels of citrulline in blood tested by tandem mass spectrometry and increased orotic acid and uracil in urine on gas chromatography-mass spectrometry may aid the diagnosis OTCD.
OBJECTIVE: To explore the clinical manifestations and biochemical characteristics of patients with ornithine transcarbamylase deficiency (OTCD) so as to increase the clinician awareness for this disease. METHODS: The clinical manifestations, blood ammonia levels, citrulline levels, urinary orotic acid and uracil levels were analyzed for 40 patients with OTCD from 2005 to 2013. And comparisons were made with 25 healthy children. RESULTS: Among them, the median age of onset was 1.4 years (3 days-29 years). The major clinical manifestations were feeding difficulties, persistent vomiting, convulsions, unconsciousness and hyperammonemia, etc. The blood levels of citrulline in these patients were significantly lower than those of the control group (6.35 (1.84-21.11) vs 13.65 (10.23-24.52) µmol/L, P < 0.05) . The urinary levels of orotic acid and uracil in these patients were significantly higher than those in the control group (167.77 (1.21-1 650.45) vs 0.25 (0-2.32) mmol/molCr, 52.67 (3.50-338.64) vs 0.69 (0-2.87) mmol/molCr, P < 0.05) . CONCLUSION: For patients with hyperammonemia, the decreased levels of citrulline in blood tested by tandem mass spectrometry and increased orotic acid and uracil in urine on gas chromatography-mass spectrometry may aid the diagnosis OTCD.