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

More general terms

• carbohydrate inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/606824