頁籤選單縮合
題 名 | Non-ketotic Hyperglycinemia with a Novel GLDC Mutation in a Taiwanese Child=非酮性高甘氨酸血症在GLDC基因之新突變點 |
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作 者 | 張家穎; 林炫沛; 林翔宇; 莊志光; 何啟生; 許瓊心; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 49:1 2008.01-02[民97.01-02] |
頁 次 | 頁35-37+48 |
分類號 | 417.517 |
關鍵詞 | AMT基因; GLDC基因; 嬰兒幽門肥厚狹窄; NMDA受器; 非酮性高甘氨酸血症; AMT gene; GLDC gene; Infantile hypertrophic pyloric stenosis; NMDA receptor; Non-ketotic hyperglycinemia; |
語 文 | 英文(English) |
中文摘要 | 我們報告了一例典型的新生兒型的非酮性高甘氨酸血症的病人。其典型的症狀包括自出生時頻繁的打嗝和痙攣,基因的分析証實了在GLDC基因上有遺傳自母親的單一對偶基因的突變,爲在外顯子8的核苷酸1111位點的突變(c. 1111C>G)而造成在氨基酸371位點而造成組氨酸轉變成天門冬酸的基因產物(P. His371Asp),而另一GLDC對偶基因的缺失則是來自於父親。 |
英文摘要 | We report a newborn boy with the classic neonatal form of non-ketotic hyperglycinemia (NKH). He had a typical presentation of frequent hiccups and myoclonic movements since birth. Genetic analysis demonstrated a mutant allele with a single substitution at nucleotide 1111 of exon 8 (c. 1111 C>G) in the GLDC gene inherited from his mother, resulting in a histidine-to-aspartic acid change at amino acid position 371 (p. His371Asp mutation) in the gene product. The other allele of the GLDC gene was deleted, a mutation inherited from the father. |
本系統中英文摘要資訊取自各篇刊載內容。