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IEMbase 0482: SLC5A1-related intestinal sodium-glucose cotransporter 1 deficiency

Scope

Field Value
IEMbase ID 482
Nosology 3.6.04.01
Gene SLC5A1
External IDs OMIM:606824; ORPHA:35710
Generated mapping UNMAPPED; best candidate Glycogen_Storage_Disease_Type_I.yaml
Candidate DisMech targets Glucose-Galactose_Malabsorption.yaml; rejected lexical candidate Glycogen_Storage_Disease_Type_I.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive SLC5A1-related intestinal sodium-glucose cotransporter 1 deficiency as glucose-galactose malabsorption. It records fructose-based carbohydrate-free formula as treatment. Biochemical rows include normal oral fructose loading, positive oral glucose and galactose loading tests, decreased glucose and galactose uptake by enterocytes, normal-to-increased urinary glucose, increased stool reducing sugars, and normal-to-high plasma sodium. Clinical rows include failure to thrive and urolithiasis.

DisMech phenotype coverage

Glucose-Galactose_Malabsorption.yaml is the exact local target. The entry models biallelic SLC5A1/SGLT1 loss of function in small-intestinal enterocytes, failure of active glucose/galactose absorption, spared fructose absorption via GLUT5, osmotic diarrhea and dehydration, dietary rechallenge recurrence, neonatal-onset watery diarrhea, hypernatremic dehydration, failure to thrive, abdominal distension/bloating, nephrolithiasis, elevated stool reducing substances, positive hydrogen breath testing, and fructose-based glucose/galactose-free formula.

Concordance and completeness

Judgement: false negative generated mapping; resolve to Glucose-Galactose_Malabsorption.yaml.

The GSD I candidate is a false-positive carbohydrate-metabolism neighbor. IEMbase and DisMech agree on SLC5A1/SGLT1 identity, recessive inheritance, selective glucose/galactose malabsorption with fructose sparing, stool reducing substances, failure to thrive, stone risk, and fructose-based formula. IEMbase adds explicit oral loading-test and enterocyte uptake rows, urinary glucose, and plasma sodium. DisMech is stronger on the causal diarrhea/dehydration path and on the distinction from renal SLC5A2/SGLT2 disease.

Curation actions

  • Treat this as covered by Glucose-Galactose_Malabsorption.yaml.
  • Reject Glycogen_Storage_Disease_Type_I.yaml as an exact mapping.
  • Consider evidence-backed additions for the oral glucose/galactose/fructose loading tests, enterocyte uptake assays, urinary glucose, and plasma sodium.