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新生儿因谷氨酰胺酶缺乏所致的新生儿脑病。

Neonatal Encephalopathy due to Glutaminase Deficiency in a Neonate.

作者信息

Achanta Unnati, Krishnan Shrinidhi, Chandrasekaran Ashok, Wilson S Robert, Aiyappan Senthil Kumar, Sundar Subash

机构信息

Department of Paediatrics SRM Medical College Hospital and Research Centre Chengalpattu India.

Department of Neonatology SRM Medical College Hospital and Research Centre Chengalpattu India.

出版信息

Clin Case Rep. 2024 Nov 17;12(11):e9567. doi: 10.1002/ccr3.9567. eCollection 2024 Nov.

DOI:10.1002/ccr3.9567
PMID:39559284
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11570421/
Abstract

Identifying neurometabolic disorders that lead to neonatal encephalopathy is difficult, and access to exome sequencing is a significant advantage in developing countries. We present a case of neonatal encephalopathy characterized by refractory seizures and significant apnea resulting from glutaminase deficiency, along with elevated levels of glutamine and glycine in the cerebrospinal fluid. Although the condition was fatal, it was possible to offer genetic counseling and recommendations for future pregnancies following exome sequencing.

摘要

识别导致新生儿脑病的神经代谢紊乱疾病具有挑战性，而在发展中国家，进行外显子组测序是一项显著优势。我们报告了一例以难治性癫痫发作和严重呼吸暂停为特征的新生儿脑病病例，其病因是谷氨酰胺酶缺乏，同时脑脊液中谷氨酰胺和甘氨酸水平升高。尽管该病例最终死亡，但通过外显子组测序，仍可为未来妊娠提供遗传咨询和建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2959/11570421/43f85f313926/CCR3-12-e9567-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2959/11570421/3b822ded601c/CCR3-12-e9567-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2959/11570421/0c80feecff1b/CCR3-12-e9567-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2959/11570421/43f85f313926/CCR3-12-e9567-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2959/11570421/3b822ded601c/CCR3-12-e9567-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2959/11570421/0c80feecff1b/CCR3-12-e9567-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2959/11570421/43f85f313926/CCR3-12-e9567-g002.jpg

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本文引用的文献

1
Developmental and epileptic encephalopathies - therapeutic consequences of genetic testing.发育性和癫痫性脑病——基因检测的治疗后果
Med Genet. 2022 Sep 22;34(3):215-224. doi: 10.1515/medgen-2022-2145. eCollection 2022 Oct.
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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.谷氨酰胺酶活性亢进的第二例病例：拓展癫痫表型
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Front Synaptic Neurosci. 2019 Nov 21;11:33. doi: 10.3389/fnsyn.2019.00033. eCollection 2019.
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Inborn errors of enzymes in glutamate metabolism.谷氨酸代谢中酶的先天性缺陷。
J Inherit Metab Dis. 2020 Mar;43(2):200-215. doi: 10.1002/jimd.12180. Epub 2019 Oct 11.
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Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management.新生儿脑病：为实现最佳管理需认识多种病因
Front Pediatr. 2019 Apr 16;7:142. doi: 10.3389/fped.2019.00142. eCollection 2019.
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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .谷氨酸酶缺乏症由. 中的短串联重复扩展引起
N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.
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Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.在谷氨酰胺酶缺乏症和新生儿癫痫性脑病的背景下鉴定功能丧失突变。
JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941.