GLUCOSE GALACTOSE MALABSORPTION

SLC5A1 GENE ANALYSIS

Glucose-Galactose Malabsorption is an autosomal recessive disorder which presents within the first weeks of life with severe watery and acidic diarrhoea and dehydration. The disorder can be fatal within a few weeks unless glucose and galactose are eliminated from the diet. Disease-causing variants in the SLC5A1 gene have been identified in 16/26 (62%) families with Glucose-Galactose Malabsorption (Martin et al, Nat Genet 1996, 12: 216-220).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.