Department of Neonatology, AZ Sint-Jan Brugge-Oostende AV, Ruddershove 10, 8000, Bruges, Belgium.
Eur J Pediatr. 2013 Mar;172(3):409-11. doi: 10.1007/s00431-012-1802-9. Epub 2012 Jul 29.
Glucose-galactose malabsorption (GGM) is an autosomal recessive disease caused by mutations in the Na(+)/glucose cotransporter gene SLC5A1 (OMIM 182380, phenotype number 606824). Patients with GGM present with neonatal onset of severe life-threatening diarrhoea and dehydration. We describe a 5-day-old girl with the typical clinical course of GGM. Our clinical diagnosis was confirmed by an abnormal chromatography of the stool and normal small bowel biopsies. Mutation analysis revealed a novel, homozygous deletion within exon 10 of the SLC5A1 gene, i.e. c.1107_1109 del AGT.
葡萄糖-半乳糖吸收不良症（GGM）是一种常染色体隐性疾病，由 SLC5A1 基因（Na+/葡萄糖共转运蛋白基因，OMIM 182380，表型编号 606824）中的突变引起。GGM 患者在新生儿期出现严重危及生命的腹泻和脱水。我们描述了一位 5 天大的女孩，其具有 GGM 的典型临床过程。我们的临床诊断通过粪便异常色谱分析和正常的小肠活检得到了确认。突变分析显示 SLC5A1 基因第 10 外显子内存在一个新的纯合缺失，即 c.1107_1109delAGT。
