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A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene.

Hasan AkdumanDilek DilliSerdar Ceylaner
Published in: Journal of pediatric genetics (2020)
Congenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.
Keyphrases
  • copy number
  • genome wide
  • blood glucose
  • genome wide identification
  • photodynamic therapy
  • type diabetes
  • metabolic syndrome
  • clostridium difficile
  • early onset
  • blood pressure
  • irritable bowel syndrome
  • skeletal muscle