Glucose/galactose malabsorption
| Disorder | |
|---|---|
| OMIM #: | #606824 (Click to access OMIM database) |
| Disorder: | Glucose/galactose malabsorption |
| Also known as: | GGM Monosaccharide malabsorption |
| Clinical | |
| Phenotype: | neonatal onset of severe chronic diarrhea, malabsorption of glucose and galactose, 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. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | SLC5A1 |
| Base Change: | G>A, at nucleotide 1673 |
| Amino Acid Change: | arg 558 --> his |
| Last updated: | 2023-02-01 |
| 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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