Congenital lactase deficiency
ICD-10 E73.0 is a billable code used to indicate a diagnosis of congenital lactase deficiency.
Congenital lactase deficiency is a rare genetic disorder characterized by the inability to produce sufficient amounts of lactase, the enzyme responsible for breaking down lactose, a sugar found in milk and dairy products. This condition is typically present from birth and results in gastrointestinal symptoms such as diarrhea, abdominal pain, and bloating upon ingestion of lactose-containing foods. The deficiency is caused by mutations in the LCT gene, which encodes the lactase enzyme. Diagnosis is often made through clinical evaluation, dietary history, and sometimes genetic testing. Management primarily involves dietary modifications to eliminate lactose from the diet, which can significantly improve symptoms. Unlike acquired lactose intolerance, which can develop later in life, congenital lactase deficiency is lifelong and requires careful dietary management to prevent malnutrition and ensure proper growth and development in affected infants and children.
Detailed growth and dietary history, symptomatology, and any genetic testing results.
Infants presenting with diarrhea and failure to thrive after milk ingestion.
Close monitoring of nutritional status and growth parameters is essential.
Comprehensive evaluation of gastrointestinal symptoms and response to dietary changes.
Patients with chronic abdominal pain and bloating after dairy consumption.
Differentiating from other gastrointestinal disorders such as celiac disease or IBS.
Used to confirm lactose intolerance in patients with suspected lactase deficiency.
Document the rationale for the test and the patient's dietary history.
Pediatric gastroenterologists often perform this test.
Congenital lactase deficiency is a genetic disorder that results in the inability to produce enough lactase enzyme, leading to gastrointestinal symptoms when lactose is consumed.
Diagnosis is typically made through clinical evaluation, dietary history, and may include genetic testing to confirm mutations in the LCT gene.
The primary treatment is a strict lactose-free diet to prevent symptoms and ensure proper growth and development.
