S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report

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• 作者：Mahoko Furujo^a ; ^{fuhkun@okayama3.hosp.go.jp} ; Masako Kinoshita^b ; Masayoshi Nagao^c ; Toshihide Kubo^a
• 关键词：Methionine adenosyltransferase deficiency ; Supplementary treatment ; S-adenosylmethionine
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 期刊代码：175_10967192
• 类别：bio
• 出版时间：March, 2012
• 卷：105
• 期：3
• 页码：516-518
• 文件大小：566 K

摘要

Reported is a female patient with methionine adenosyltransferase I/III (MAT I/III) deficiency, who was found to have pronounced hypermethioninemia on newborn mass spectroscopy screening, and had two compound heterozygous missense mutations in the gene encoding human MAT1A protein. Hypermethioninemia persisted and her mental development was deficient. At 4 years and 8 months, we started with the supplementary treatment of S-adenosylmethionine, the metabolic product of methionine catalyzed by MAT, which was effective in her neurological development.