glucose/galactose malabsorption

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glucose/galactose malabsorption

An autosomal recessive disorder (OMIM:606824) caused by intestinal monosaccharide transporter deficiency that appears shortly after birth, characterised by severe diarrhoea and dehydration that are usually fatal unless glucose and galactose are eliminated from the diet.

Molecular pathology
Defects of SLC5A1, which encodes a glucose transporter that is the primary mediator of glucose and galactose uptake from the intestinal lumen, cause glucose-galactose malabsorption.