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Article

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

Biochimica et biophysica acta - 24 Feb 1999

Lam J T, Martín M G, Turk E, Hirayama B A, Bosshard N U, Steinmann B, Wright E M

Abstract excerpt

Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder caused by defects in the Na+/glucose cotransporter (SGLT1). Neonates present with severe diarrhea while on any diet containing glucose and/or galactose [1]. This study focuses on a patient of Swiss and Dominican descent. All 15 exons of SGLT1 were screened using single stranded conformational polymorphism analyses, and aberrant PCR products...

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Identifiers

PMID: 10036327
DOI: 10.1016/s0925-4439(98)00109-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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