Infants with Congenital Lactase Deficiency typically present symptoms soon after birth, once they begin consuming breast milk or formula. The primary symptoms include watery diarrhea, bloating, and abdominal pain. These symptoms can lead to dehydration and weight loss if not promptly addressed. Unlike other forms of lactose intolerance that develop later in life, CLD symptoms appear immediately after the first exposure to lactose.

Diagnosing CLD involves a combination of clinical evaluation and laboratory tests. A detailed patient history and symptom assessment are crucial. Stool acidity tests can indicate undigested lactose, while a hydrogen breath test may be used to measure hydrogen levels produced by undigested lactose in the colon. Genetic testing can confirm the diagnosis by identifying mutations in the LCT gene responsible for lactase production.

The primary treatment for Congenital Lactase Deficiency is a lactose-free diet. Infants are typically fed lactose-free formula to prevent symptoms. As they grow, children and adults with CLD must continue to avoid lactose-containing foods. Lactase enzyme supplements are generally ineffective in CLD, as the deficiency is complete and congenital.

With proper dietary management, individuals with Congenital Lactase Deficiency can lead healthy lives. Early diagnosis and strict adherence to a lactose-free diet are essential to prevent complications such as dehydration and malnutrition. Lifelong dietary adjustments are necessary, but with modern food options, managing the condition is more feasible.

Congenital Lactase Deficiency is caused by mutations in the LCT gene, which provides instructions for making lactase. These mutations result in little to no production of lactase, preventing the digestion of lactose. The condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.

CLD is extremely rare, with most cases reported in Finland, where the condition is more prevalent due to a higher frequency of the genetic mutation. It is less common in other populations, making it a rare diagnosis in most parts of the world.

In individuals with CLD, the absence of lactase in the small intestine means lactose cannot be broken down into glucose and galactose, which are easily absorbed. Instead, lactose remains in the gut, drawing water into the intestines and leading to diarrhea. Fermentation of lactose by bacteria in the colon produces gas, causing bloating and discomfort.

Currently, there is no known way to prevent Congenital Lactase Deficiency, as it is a genetic condition. Genetic counseling may be beneficial for families with a history of the disorder to understand the risks and implications for future offspring.

Congenital Lactase Deficiency is a rare genetic disorder characterized by the inability to digest lactose due to a lack of the enzyme lactase. It presents with severe gastrointestinal symptoms in newborns and requires a lifelong lactose-free diet for management. Early diagnosis and dietary adjustments are crucial for preventing complications and ensuring a healthy life.

For patients and families dealing with Congenital Lactase Deficiency, understanding the condition is key to effective management. It is important to strictly adhere to a lactose-free diet to avoid symptoms. Many lactose-free products are available, making dietary management easier. Regular follow-ups with healthcare providers can help monitor growth and nutritional status, ensuring a balanced diet despite dietary restrictions.