Xanthocarpism

Xanthocarpism is a rare inherited condition characterized by a deficiency in the enzyme lactase-phlorizin hydrolase. This enzyme is responsible for breaking down lactose, the primary sugar found in milk, into glucose and galactose, which can then be absorbed by the body. Individuals with xanthocarpism are unable to effectively digest lactose, leading to lactose intolerance.

Symptoms of xanthocarpism typically manifest after the introduction of milk or dairy products into the diet. These can include abdominal pain, bloating, flatulence, and diarrhea. The severity of symptoms can vary depending on the amount of lactose consumed and the individual's degree of enzyme deficiency. In infants, this condition can cause failure to thrive and significant gastrointestinal distress.

The inheritance pattern for xanthocarpism is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to exhibit the condition. Diagnosis is usually made through genetic testing or by observing the response to a lactose-free diet.

There is no cure for xanthocarpism, as it is a genetic disorder. However, the condition can be effectively managed by avoiding lactose-containing foods and beverages. Lactose-free milk and dairy products, as well as lactase enzyme supplements, are available to help individuals with xanthocarpism digest lactose and prevent symptoms. Early diagnosis and management are important to ensure proper growth and development in affected children.