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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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