Abstract: 【Abstract】 Objective To investigate the etiology, clinical manifestations, intervention measures and prognosis of neonatal hyperammonemia. Method From April 2016 to December 2020, a total of 247 cases with neonatal hyperammonemia were hospitalized in the Department of Pediatric, the 980th Hospital of the PLA Joint Logistic Support Force. The clinical data were retrospectively analyzed. According to the plasma ammonia levels, they were divided into three groups: severe (≥200 μmol/L, n=14), moderate (100-200 μmol/L, n=110)and mild (50-99 μmol/L, n=123). The differences in clinical manifestations, treatment and prognosis amongdifferent groups were analyzed by χ2 test. Result There were 21.4% (3/14) premature infants in the severe group, 48.2% (53/110) in the moderate group, and 47.2% (58/123) in the mild group, with no statistically significant difference (χ2=3.675, P=0.159). The proportion of clinical symptoms in the severe group [92.8%(13/14)] was higher than that in the moderate group [29.1% (32/110)] and mild group [3.2% (4/123)] withstatistically significant difference (χ2=21.842 and 92.852, P<0.001), and the moderate group was higherthan that in the mild group (χ2=29.678, P<0.001). 173 cases (70.0%, 173/247) underwent metabolic disease screening and 12 cases were diagnosed as genetic metabolic diseases. The proportion of metabolic diseasesin the severe group [66.7% (8/12)] was higher than that in the moderate group [4.3% (3/70)] and mild group[1.1% (1/91)], with statistically significant difference (χ2=34.320 and 57.157, P<0.001). There were 61 cases(24.7%) with infections, and the proportions in the severe, moderate, and mild groups were 14.3% (2/14),20.9% (23/110), and 29.3% (36/123), respectively, with no statistically significant difference (χ2=3.047,P=0.218). The proportions of infants who achieved sufficient feeding in the severe, moderate, and mild groups were 28.6% (4/14), 36.4% (40/110), and 55.3% (68/123), respectively, and that in the mild group was higher than that in the moderate group (χ2=8.360, P=0.004). The proportions of infants with circulatory failure in the severe, moderate, and mild groups were 28.6% (4/14), 1.8% (2/110), and 0.8% (1/123), and that in the severe group was higher than that in the moderate group (χ2=19.305 and 27.542, P<0.001). The proportions of infants with poor prognosis in the severe, moderate, and mild groups were 21.4% (3/14), 11.9% (12/101), and 4.2% (5/120), and that in the severe group was higher than that in the mild group (χ2=6.655, P=0.010). In the severe group, the level of blood ammonia decreased after treatment in nine cases , while three cases were ineffective. In the moderate group, 13 cases were treated with medication, while ten cases were effective, one case was ineffective, and two cases were not reexamined. One case in the mild group was effectively treated with anti-hyperammonemic. Conclusion The early manifestations of neonatal hyperammonemia are not typical. When blood ammonia >100 μmol/L, dynamic monitoring of blood ammonia level is required. When blood ammonia ≥200 μmol/L, the probability of inherited metabolic diseases increases. The prognosis is closely related to the blood ammonia level and the duration of hyperammonemia.
2023, Vol. 11 
