Amish, Mennonite, and Hutterite
Genetic Disorder Database

Glucose/galactose malabsorption

Disorder
OMIM #: #606824  (Click to access OMIM database)
Disorder: Glucose/galactose malabsorption 
Also known as: GGM 
Clinical
Phenotype: neonatal onset of severe diarrhea; dehydration; wasting/weight loss; distended abdomen; metabolic acidosis; hypernatremia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: SLC5A1
Base Change: G>A, at nucleotide 1673
Amino Acid Change: arg 558 --> his
Last updated: 2020-01-02 

References
Rajbhandari P, Mandelia C, Janjua HS, Selvakumar PKC, Krishna S. (2017) A 9-Day-Old With Weight Loss and Diarrhea. Pediatrics May;139(5):e20162953.
PubMed ID: 28557733 
Xin B, Wang H. (2011) Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet Jan;79(1):86-91.
PubMed ID: 20486940 

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