Chen Yan-Yan, Cheng Ting-Ting, Yao Jie, Huang Long-Guang, Li Xiu-Zhen, Zhang Wen, Liang Hong
Department of Neonatology, Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Jul 15;27(7):850-853. doi: 10.7499/j.issn.1008-8830.2412043.
Case 1: A 19-day-old male infant presented with poor feeding and decreased activity for 2 weeks, worsening with poor responsiveness for 3 days. At 5 days old, he developed poor feeding and poor responsiveness, was hospitalized, and was found to have elevated blood ammonia and thrombocytopenia. Whole-genome genetic analysis revealed a pathogenic homozygous mutation in the gene, NM-000282.4: c.1834-1835del (p.Arg612AspfsTer44), leading to a diagnosis of propionic acidemia. Case 2: A 4-day-old male infant presented with poor responsiveness and feeding difficulties since birth, with elevated blood ammonia for 1 day. He showed weak sucking and deteriorating responsiveness, with blood ammonia >200 µmol/L. Genetic testing identified two heterozygous mutations in the gene: NM_000255.4: c.1677-1G>A and NM_000255.4: ex.5del, confirming methylmalonic acidemia. Case 3: A 20-day-old male infant presented with poor feeding for 15 days and skin petechiae for 8 days. He developed feeding difficulties at 5 days old and lower limb petechiae at 12 days old, with blood ammonia measured at 551.6 µmol/L. Genetic analysis found two heterozygous mutations in the gene: NM_000282.4: c.1118T>A (p.Met373Lys) and NM_000282.4: ex.16-18del, confirming propionic acidemia. In the first two cases, continuous hemodiafiltration was performed for 30 hours and 20 hours, respectively, before administering carglumic acid. In the third case, carglumic acid was administered orally without continuous hemodiafiltration, resulting in a decrease in blood ammonia from 551.6 µmol/L to 72.0 µmol/L within 6 hours, with a reduction rate of approximately 20-25 µmol/(kg·h), similar to the first two cases. Carglumic acid was effective in all three cases, suggesting it may help optimize future treatment protocols for organic acidemia.
病例1：一名19日龄男婴，出现喂养困难和活动减少2周，近3天反应迟钝加重。出生5天时，他出现喂养困难和反应迟钝，住院后发现血氨升高和血小板减少。全基因组遗传分析显示基因NM-000282.4存在致病性纯合突变：c.1834-1835del（p.Arg612AspfsTer44），诊断为丙酸血症。病例2：一名4日龄男婴，自出生以来出现反应迟钝和喂养困难，血氨升高1天。他吸吮无力且反应逐渐变差，血氨>200µmol/L。基因检测在该基因中发现两个杂合突变：NM_000255.4：c.1677-1G>A和NM_000255.4：ex.5del，确诊为甲基丙二酸血症。病例3：一名20日龄男婴，出现喂养困难15天，皮肤瘀点8天。5日龄时出现喂养困难，12日龄时下肢出现瘀点，血氨测定为551.6µmol/L。基因分析在该基因中发现两个杂合突变：NM_000282.4：c.1118T>A（p.Met373Lys）和NM_000282.4：ex.16-18del，确诊为丙酸血症。在前两例中，分别在给予卡谷氨酸前进行了30小时和20小时的持续血液透析滤过。在第三例中，未进行持续血液透析滤过而口服卡谷氨酸，血氨在6小时内从551.6µmol/L降至72.0µmol/L，下降速率约为20-25µmol/（kg·h），与前两例相似。卡谷氨酸在所有三例中均有效，表明其可能有助于优化未来有机酸血症的治疗方案。
