Congenital lactase deficiency Save

Congenital Lactase Deficiency: Understanding the Basics

Congenital lactase deficiency is a rare genetic disorder that affects infants from birth. It is characterized by the baby's inability to produce enough lactase, the enzyme responsible for breaking down lactose, the sugar found in milk and dairy products. This condition can lead to digestive problems and discomfort when consuming lactose-containing foods.

Here are a few key points to better understand congenital lactase deficiency:

1. Causes: This condition is caused by mutations in the LCT gene, which provides instructions for making lactase. These gene mutations result in the absence or reduced production of lactase, leading to the inability to digest lactose effectively.
2. Symptoms: Infants with congenital lactase deficiency may experience symptoms such as diarrhea, bloating, gas, and abdominal cramps shortly after consuming breast milk or formula. These symptoms can be distressing for both the baby and parents.
3. Diagnosis: If congenital lactase deficiency is suspected, healthcare professionals may perform various tests, including a lactose tolerance test or genetic testing, to confirm the diagnosis. Early diagnosis is crucial to manage the condition effectively.
4. Management: The primary management approach for congenital lactase deficiency revolves around lactose avoidance. Infants may need to be fed with lactose-free formula or breast milk substitutes that are low in lactose. Consulting a healthcare professional is essential to determine the most appropriate feeding plan for each individual case.
5. Outlook: With proper management and dietary adjustments, infants with congenital lactase deficiency can lead normal and healthy lives. As the child grows older, the condition may improve, and gradual reintroduction of lactose-containing foods can be attempted under medical supervision.

It is important to note that congenital lactase deficiency should not be confused with lactose intolerance, which typically develops later in life and is more prevalent among adults.

In conclusion, congenital lactase deficiency is a rare genetic condition that affects infants from birth. By understanding its causes, symptoms, and management strategies, parents and healthcare professionals can work together to ensure the well-being of the child while minimizing digestive discomfort. Early diagnosis and appropriate dietary modifications are key to managing this condition effectively.