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congenital glucose/galactose malabsorption
Pathology:
- intestinal monosaccharide transporter deficiency
Genetics:
- autosomal recessive
- associated with defects in SLC5A1 gene
Clinical manifestations:
- manifests within the 1st weeks of life
- severe diarrhea & dehydration
Management:
- generally fatal unless glucose & galactose are eliminated from the diet
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 606824
References
OMIM :accession 606824