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A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.
Features include always present findings: Diarrhea. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Diarrhea, Malabsorption, Abdominal pain |
Lab test results | 1 | Decreased mucosal sucrase-isomaltase activity |
Kidneys and urinary system | 1 | Nephrolithiasis |
SI function has not been fully characterized.
Congenital sucrase-isomaltase deficiency is associated with mutations in the SI gene on chromosome 3.
Genetic testing for SI is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for congenital sucrase-isomaltase deficiency has been reported in the published literature.
1 FDA-approved treatment is available for congenital sucrase-isomaltase deficiency, including SACROSIDASE (SUCRAID, approved 1998).
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
SUCRAID | SACROSIDASE | — | 1998 | Available |
3 trials found
Phenotype severity distribution: 1 always present feature.
Estimated prevalence: 1-5 in 10,000 (Uncommon).
3 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 2 NA. Research is primarily sponsored by academic and government institutions.
9 publications have been identified in PubMed for congenital sucrase-isomaltase deficiency. Research spans Case Report / Case Series (33%), Diagnostic / Biomarker (22%), and Clinical Trial Publication (22%).
Demirci FK (2026). [PMID: 42194600](https://pubmed.ncbi.nlm.nih.gov/42194600/). *J Clin Med*. [Case Report / Case Series]
Hoskins BJ (2026). [PMID: 41877710](https://pubmed.ncbi.nlm.nih.gov/41877710/). *Pediatr Gastroenterol Hepatol Nutr*. [Diagnostic / Biomarker]
Senftleber N (2026). [PMID: 41995844](https://pubmed.ncbi.nlm.nih.gov/41995844/). *Diabetologia*. [Clinical Trial Publication]
Zubarioglu T (2025). [PMID: 39676735](https://pubmed.ncbi.nlm.nih.gov/39676735/). *Autism research : official journal of the International Society for Autism Research*. [Clinical Trial Publication]
Rahman RK (2025). [PMID: 39412673](https://pubmed.ncbi.nlm.nih.gov/39412673/). *Pediatr Nephrol*. [Case Report / Case Series]
Street K (2024). [PMID: 39292728](https://pubmed.ncbi.nlm.nih.gov/39292728/). *PLoS One*. [Diagnostic / Biomarker]
Barut D (2024). [PMID: 38459691](https://pubmed.ncbi.nlm.nih.gov/38459691/). *Scandinavian journal of gastroenterology*. [Case Report / Case Series]
Isidor S (2024). [PMID: 39042812](https://pubmed.ncbi.nlm.nih.gov/39042812/). *Int J Circumpolar Health*. [Epidemiology / Natural History]
Danialifar TF (2024). [PMID: 38327254](https://pubmed.ncbi.nlm.nih.gov/38327254/). *Journal of pediatric gastroenterology and nutrition*. [Review / Meta-Analysis]
Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC
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