Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glucose-Galactose Malabsorption

Glucose-Galactose Malabsorption is an autosomal recessive disorder characterized by reduced intestinal resoption of glucose and galactose. The accompanying renal symptom is glucosuria.

Symptoms

Diarrhea
Diarrhea manifests within the first weeks of life and causes severe life threatening dehydration unless glucose and galactose are eliminated from the diet.
Nephrocalcinosis
In patient with glucose-galactose malabsorption also nephrocalcinosis can develop associated with proximal tubular damage such as acidosis.
Acidosis
Patients with glucose-galactose malabsorption may also show renal tubular acidosis based on proximal tubular damage.

Systematic

Monosacchariduria
Fructosuria
Glucose-Galactose Malabsorption
SLC5A1
Renal Glucosuria

References:

1.

Pahari A et al. (2003) Neonatal nephrocalcinosis in association with glucose-galactose malabsorption.

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2.

El-Naggar W et al. (2005) Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis.

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3.

Soylu OB et al. (2008) Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.

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4.

Wright EM et al. (1991) Molecular genetics of intestinal glucose transport.

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5.

Turk E et al. (1991) Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.

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6.

Vallaeys L et al. (2013) Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.

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7.

Saadah OI et al. (2014) Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia.

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8.

Orphanet article

Orphanet ID 35710 [^]
9.

OMIM.ORG article

Omim 606824 [^]
10.

Wikipedia article

Wikipedia EN (Glucose-galactose_malabsorption) [^]
Update: May 9, 2019