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Attenuated brain lesion on magnetic resonance imaging in an adult patient with methionine adenosyltransferase I/III deficiency.

作者信息

Maruta Ubuka, Shimono Taro, Tokuhara Daisuke, Hanayama Yoshiko, Miki Yukio

机构信息

Department of Diagnostic and Interventional Radiology, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Abeno-ku, Osaka, 545-8585, Japan.

Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Abeno-ku, Osaka, 545-8585, Japan.

出版信息

Neurol Sci. 2017 Jun;38(6):1131-1133. doi: 10.1007/s10072-017-2879-8. Epub 2017 Feb 28.

DOI:10.1007/s10072-017-2879-8
PMID:28247119
Abstract
摘要

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1
Attenuated brain lesion on magnetic resonance imaging in an adult patient with methionine adenosyltransferase I/III deficiency.一名患有甲硫氨酸腺苷转移酶I/III缺乏症的成年患者磁共振成像显示脑病变减轻。
Neurol Sci. 2017 Jun;38(6):1131-1133. doi: 10.1007/s10072-017-2879-8. Epub 2017 Feb 28.
2
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency.蛋氨酸腺苷转移酶I/III缺乏症中的可逆性白质病变
AJNR Am J Neuroradiol. 2004 Nov-Dec;25(10):1843-5.
3
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.大脑脱髓鞘与甲硫氨酸腺苷转移酶I/III缺乏有关。
J Clin Invest. 1996 Aug 15;98(4):1021-7. doi: 10.1172/JCI118862.
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Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction.患者患有严重的蛋氨酸腺苷转移酶 I/III 缺乏症，但通过持续限制饮食中的蛋氨酸摄入，其神经发育仍保持正常。
Gene. 2013 Nov 1;530(1):104-8. doi: 10.1016/j.gene.2013.08.025. Epub 2013 Aug 23.
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Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.在日本进行新生儿筛查时发现的蛋氨酸腺苷转移酶 I/III 缺乏症相关突变谱。
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Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.甲硫氨酸腺苷转移酶（MAT）I/III缺乏症并发高同型半胱氨酸血症：两例新病例
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Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.一名31岁男性的肝脏蛋氨酸腺苷转移酶缺乏症。
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Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.蛋氨酸腺苷转移酶 I/III 缺乏症：神经表现和 S-腺苷甲硫氨酸的相关性。
Mol Genet Metab. 2012 Nov;107(3):253-6. doi: 10.1016/j.ymgme.2012.08.002. Epub 2012 Aug 11.

本文引用的文献

1
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.马德氏病（MAT I/III缺乏症）：MAT1A纯合子和复合杂合子数据调查
Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y.
2
Cerebral edema associated with betaine treatment in classical homocystinuria.经典型同型胱氨酸尿症中与甜菜碱治疗相关的脑水肿。
J Pediatr. 2004 Apr;144(4):545-8. doi: 10.1016/j.jpeds.2003.12.041.
3
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
高蛋氨酸摄入所致婴儿高蛋氨酸血症和高同型半胱氨酸血症：一个诊断陷阱。
Mol Genet Metab. 2003 May;79(1):6-16. doi: 10.1016/s1096-7192(03)00066-0.
4
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway.甲基转移途径先天性缺陷中脱髓鞘与脑脊液S-腺苷甲硫氨酸缺乏的关联。
Lancet. 1991;338(8782-8783):1550-4. doi: 10.1016/0140-6736(91)92373-a.