BACKGROUND Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management. CASE REPORTS We present three infants from unrelated families, one with infantile and two with neonatal hyperammonemic encephalopathy, hypoglycaemia, and hyperlactatemia. The underlying cause was confirmed following whole exome sequencing as biochemical markers were not conclusive of a definite diagnosis. CONCLUSION The combination of hyperammonemic encephalopathy, hyperlactatemia and hypoglycemia in neonates and infants should prompt physicians to suspect Carbonic anhydrase VA deficiency. Majority of these children can have a favourable long-term outcome with symptomatic treatment.

中文翻译：

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三名表现早期代谢危机的印度婴儿的线粒体碳酸酐酶 VA 缺乏症

背景具有非特异性生化标志物的新生儿和幼儿的高氨血症和高乳酸血症对诊断提出了挑战。准确的诊断对于有效管理至关重要。病例报告 我们介绍了来自无关家庭的三名婴儿，一名患有婴儿，两名患有新生儿高氨血症性脑病、低血糖症和高乳酸血症。在整个外显子组测序后证实了根本原因，因为生化标志物不能作为明确诊断的结论。结论 新生儿和婴儿的高氨血症性脑病、高乳酸血症和低血糖的组合应促使医生怀疑碳酸酐酶 VA 缺乏症。这些儿童中的大多数可以通过对症治疗获得良好的长期结果。