Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Glucose-Galactose Malabsorption is an autosomal recessive disorder characterized by reduced intestinal resoption of glucose and galactose. The accompanying renal symptom is glucosuria.
| Diarrhea | |
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Diarrhea manifests within the first weeks of life and causes severe life threatening dehydration unless glucose and galactose are eliminated from the diet. |
| Nephrocalcinosis | |
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In patient with glucose-galactose malabsorption also nephrocalcinosis can develop associated with proximal tubular damage such as acidosis. |
| Acidosis | |
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Patients with glucose-galactose malabsorption may also show renal tubular acidosis based on proximal tubular damage. |
| 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
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| 9. |
OMIM.ORG article Omim 606824
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| 10. |
Wikipedia article Wikipedia EN (Glucose-galactose_malabsorption)
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