Sucrase-isomaltase deficiency
ICD-10 E74.31 is a billable code used to indicate a diagnosis of sucrase-isomaltase deficiency.
Sucrase-isomaltase deficiency is a rare genetic metabolic disorder characterized by the inability to properly digest sucrose and isomaltose due to a deficiency of the sucrase-isomaltase enzyme. This enzyme is crucial for breaking down these sugars into glucose and fructose, which are then absorbed in the intestines. Individuals with this deficiency often experience gastrointestinal symptoms such as abdominal pain, bloating, diarrhea, and flatulence after the ingestion of sucrose-containing foods. The condition is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the disorder to manifest. Diagnosis typically involves genetic testing and enzyme activity assays. Management focuses on dietary modifications, including the avoidance of sucrose and isomaltose, and may require supplementation with glucose or fructose to ensure adequate nutrition. Early diagnosis and intervention are critical to prevent complications associated with malabsorption and nutritional deficiencies.
Detailed patient history, symptomatology, and dietary assessments.
Patients presenting with chronic diarrhea and abdominal pain after sucrose ingestion.
Ensure documentation reflects the genetic basis of the condition and dietary restrictions.
Genetic testing results, family history, and inheritance patterns.
Families with a history of metabolic disorders seeking genetic counseling.
Document the implications of genetic findings on patient management and family planning.
Used when a patient presents with symptoms suggestive of carbohydrate malabsorption.
Document the clinical rationale for testing and any family history of metabolic disorders.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include abdominal pain, bloating, diarrhea, and flatulence after consuming sucrose or isomaltose.
