胍基乙酸甲基转移酶缺乏症：一种可通过磁共振波谱诊断的发育迟缓的可治疗病因。 - Suppr

Guanidinoacetate Methyltransferase Deficiency: A Treatable Cause of Developmental Delay Diagnosed by Magnetic Resonance Spectroscopy.

作者信息

Silvia L Caroline, Chandramohan Anandhi, Palanisamy Soundararajan

机构信息

Department of Paediatrics, Mahatma Gandhi Medical College Hospital and Research Institute, Pillaiyarkuppam, Pondicherry, India.

出版信息

Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1196-1198. doi: 10.4103/aian.aian_597_22. Epub 2022 Nov 4.

DOI:10.4103/aian.aian_597_22

PMID:36911476

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9996507/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82a3/9996507/5ef3b6ab3ff9/AIAN-25-1196-g001.jpg

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A Japanese adult case of guanidinoacetate methyltransferase deficiency.一例日本成人胍基乙酸甲基转移酶缺乏症病例。

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A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.一项通过对甘氨酸脒基转移酶（GAMT）基因进行直接测序来估计新生儿中甘氨酸脒基转移酶缺乏症发病率的试点研究。

Gene. 2016 Jan 1;575(1):127-31. doi: 10.1016/j.gene.2015.08.045. Epub 2015 Aug 28.

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.脑肌酸缺乏综合征的诊断方法与建议

Pediatr Res. 2015 Mar;77(3):398-405. doi: 10.1038/pr.2014.203. Epub 2014 Dec 18.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.胍乙酸甲基转移酶（GAMT）缺乏症：48例患者的预后及诊断、治疗和监测建议

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Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.伪装成线粒体脑病的胍基乙酸甲基转移酶缺乏症。

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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.不明原因智力发育迟缓患者中肌酸缺乏综合征的高发病率。

Neurology. 2006 Nov 14;67(9):1713-4. doi: 10.1212/01.wnl.0000239153.39710.81.

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.新生儿胍基乙酸甲基转移酶缺乏症的症状前治疗。

Neurology. 2006 Aug 22;67(4):719-21. doi: 10.1212/01.wnl.0000230152.25203.01.

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Pediatr Res. 1994 Sep;36(3):409-13. doi: 10.1203/00006450-199409000-00023.

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Guanidinoacetate Methyltransferase Deficiency: A Treatable Cause of Developmental Delay Diagnosed by Magnetic Resonance Spectroscopy.

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