Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.
Cotransporters harness ion gradients to drive 'active' transport of substrates into cells, for example, the Na+/glucose cotransporter (SGLT1) couples sugar transport to Na+ gradients across the intestinal brush border. Glucose-Galactose Malabsorption (GGM) is caused by a defect in SGLT1. The phenotype is neonatal onset of diarrhea that results in death unless these sugars are removed from the diet. Previously we showed that two sisters with GGM had a missense mutation in the SGLT1 gene. The gene has now been screened in 30 new patients, and a heterologous expression system has been used to link the mutations to the phenotype.
Martín
M G
MG
Department of Physiology, UCLA School of Medicine 90095-1751, USA.
Turk
E
E
Lostao
M P
MP
Kerner
C
C
Wright
E M
EM
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001692:Biological Transport; D002462:Cell Membrane / Q000502:physiology; D005690:Galactose / Q000378:metabolism*; D006580:Genetic Carrier Screening; D005947:Glucose / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D008286:Malabsorption Syndromes / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008564:Membrane Potentials; D008757:Methylglucosides / Q000378:metabolism; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009865:Oocytes; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary; D051269:Sodium-Glucose Transporter 1; D014982:Xenopus laevis
D008562:Membrane Glycoproteins; D008757:Methylglucosides; D009004:Monosaccharide Transport Proteins; C495674:SLC5A1 protein, human; D051269:Sodium-Glucose Transporter 1; C027020:methylglucoside; D005947:Glucose; D005690:Galactose