Understanding, Diagnosing, and Using Genetic Testing for Nonpersistence of Intestinal Lactase

Nonpersistence of intestinal lactase

Expert Reviewed By: Dr. Brandon Colby MD

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Nonpersistence of intestinal lactase, commonly known as lactose intolerance, is a condition that affects a significant portion of the global population. This condition occurs when the body produces low levels of lactase, an enzyme essential for the digestion of lactose, the sugar found in milk and dairy products. In this article, we will delve into the understanding, diagnosing, and the role of genetic testing in managing this condition.

What is Nonpersistence of Intestinal Lactase?

Nonpersistence of intestinal lactase is a genetic condition where the production of lactase enzyme decreases after weaning, leading to difficulties in digesting lactose. This results in symptoms such as bloating, diarrhea, and abdominal pain after consuming dairy products. The condition is more prevalent in certain populations due to genetic variations.

Diagnosing Nonpersistence of Intestinal Lactase

Diagnosis of lactose intolerance typically involves a combination of patient history, clinical symptoms, and diagnostic tests. The following are common methods used to diagnose this condition:

Hydrogen Breath Test

The Hydrogen Breath Test is a non-invasive diagnostic tool that measures the amount of hydrogen in the breath after consuming a lactose-rich drink. Elevated levels of hydrogen indicate improper digestion of lactose, suggesting lactose intolerance.

Lactose Tolerance Test

The Lactose Tolerance Test involves measuring blood glucose levels before and after consuming a lactose-containing beverage. A lack of significant increase in blood glucose levels suggests that lactose is not properly digested and absorbed.

Stool Acidity Test

This test is often used for infants and young children. It measures the acidity of stool, which can indicate undigested lactose fermentation in the colon.

The Role of Genetic Testing in Nonpersistence of Intestinal Lactase

Genetic testing has emerged as a valuable tool in diagnosing and managing nonpersistence of intestinal lactase. By analyzing specific genetic markers, healthcare providers can determine an individual's predisposition to lactose intolerance.

Identifying Genetic Markers

Genetic testing can identify variations in the LCT gene, which is responsible for lactase production. The most common variant associated with lactose intolerance is the C/T-13910 polymorphism located upstream of the LCT gene. Individuals with the C/C genotype are more likely to experience lactase nonpersistence.

Personalized Dietary Recommendations

By understanding an individual's genetic predisposition, healthcare providers can offer personalized dietary recommendations. For example, individuals with a high likelihood of lactose intolerance can be advised to limit or avoid dairy products and consider lactose-free alternatives.

Early Detection and Management

Genetic testing allows for early detection of lactase nonpersistence, even before symptoms appear. This can be particularly beneficial for individuals with a family history of lactose intolerance. Early detection enables proactive dietary adjustments, preventing discomfort and potential complications.

Conclusion

Nonpersistence of intestinal lactase is a common condition that can significantly impact an individual's quality of life. Understanding the genetic basis of this condition and utilizing genetic testing can aid in accurate diagnosis, personalized dietary recommendations, and early management. If you suspect you have lactose intolerance, consult with a healthcare provider to explore the benefits of genetic testing and develop a tailored plan to manage your condition effectively.

For more detailed information on lactose malabsorption, you can refer to the following source: Lactose malabsorption on Semantic Scholar.

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About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠ACMG), an Associate of the American College of Preventive Medicine (⁠ACPM), and a member of the National Society of Genetic Counselors (NSGC)