Congenital glucose-galactose malabsorption (GGM)

Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder that is due to mutations in the gene coding for the sodium-glucose cotransporter (SGLT1/SLC5A1). GGM is characterized by neonatal onset of watery and acidic diarrhea, which becomes fatal within a few weeks unless glucose and galactose containing nutrients are removed from the diet.

Inherited metabolic disease

SLC5A1 [HSA:6523] [KO:K14158]

PMID:10036327

Lam JT, Martin MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking  defects.

Biochim Biophys Acta 1453:297-303 (1999)

PMID:11406349

Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T

A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.

Biochim Biophys Acta 1536:141-7 (2001)