Neonatal encephalopathy manifests with altered sensorium, tone abnormalities, and often with abnormal movements and seizures. The causes are heterogeneous and many. We report a late preterm neonate who presented with depressed sensorium, cranial nerve abnormalities, mixed hypertonia and hypotonia, and respiratory failure. Neuroimaging and electrophysiological studies were normal. She had neutropenia and elevated lactates in blood. Her dried blood spot analysis by tandem MS/MS showed normal acylcarnitine and amino acid profile. Plasma and cerebro spinal fluid (CSF) amino acid quantification were inconclusive, CSF folate was normal. Urine organic acid analysis showed elevated lactate. Semi‐quantitative analysis of urine showed borderline elevation of 3‐methylglutaconic acid. Diagnosis of 3‐methylglutaconic aciduria (3MGA) type VIII was suggested by whole‐exome sequencing, which revealed a homozygous, likely pathogenic, missense mutation in Exon 2 of HTRA2 gene (chr2.74757898A>C). Her parents were found to be carriers of the same mutation. This underscores the importance of genetic studies in the evaluation of neonatal neuro‐metabolic disorders. We report the first case of 3MGA type VIII from our region with a review of already reported 11 cases.

中文翻译：

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印度新生儿的 VIII 型 3-甲基戊二酸尿症。

新生儿脑病表现为感觉改变、音调异常，并经常伴有异常运动和癫痫发作。原因是多种多样的。我们报告了一名晚期早产新生儿，其表现为感觉神经抑制、颅神经异常、混合性张力亢进和张力减退以及呼吸衰竭。神经影像学和电生理学检查正常。她患有中性粒细胞减少症和血液中的乳酸升高。她通过串联 MS/MS 进行的干血斑分析显示酰基肉碱和氨基酸谱正常。血浆和脑脊液 (CSF) 氨基酸定量不确定，CSF 叶酸正常。尿液有机酸分析显示乳酸升高。尿液的半定量分析显示 3-甲基戊二酸升高。HTRA2基因（chr2.74757898A>C）。她的父母被发现是相同突变的携带者。这强调了遗传研究在评估新生儿神经代谢疾病中的重要性。我们报告了我们地区的第一例 3MGA VIII 型病例，并回顾了已报告的 11 例病例。