{"title":"台湾儿童非酮症性高糖血症伴GLDC突变。","authors":"Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, C. Chuang, Che-Sheng Ho, Chyong-hsin Hsu","doi":"10.7097/APT.200802.0035","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2008-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":"{\"title\":\"Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.\",\"authors\":\"Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, C. Chuang, Che-Sheng Ho, Chyong-hsin Hsu\",\"doi\":\"10.7097/APT.200802.0035\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":7156,\"journal\":{\"name\":\"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2008-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7097/APT.200802.0035\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7097/APT.200802.0035","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 3
摘要
我们报告一个新生儿与典型的新生儿形式的非酮症高血糖症(NKH)。他自出生以来就有频繁打嗝和肌阵挛性运动的典型表现。遗传分析表明，遗传自其母亲的GLDC基因的第8外显子(c. 1111 c > G)的核苷酸1111处突变等位基因导致基因产物中371个氨基酸位置的组氨酸变为天氨酸(p. His371Asp突变)。GLDC基因的另一个等位基因被删除，这是遗传自父亲的突变。
Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.
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.
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