Unlocking the Mystery of Abnormal Lactate Dehydrogenase Levels: A Guide to Understanding, Diagnosing, and Genetic Testing

Abnormal lactate dehydrogenase level

Expert Reviewed By: Dr. Brandon Colby MD

Abnormal lactate dehydrogenase (LDH) levels can be an indication of various health issues, ranging from tissue damage to cancer. As such, understanding the role of LDH in the body, how it is diagnosed, and the potential benefits of genetic testing can be crucial in managing and treating the underlying causes of abnormal LDH levels. This article will delve into the importance of LDH, diagnostic methods, and the potential benefits of genetic testing in relation to this disorder.

Understanding the Role of Lactate Dehydrogenase

Lactate dehydrogenase is an enzyme found in almost all body tissues, playing a vital role in the process of converting lactate to pyruvate, and vice versa. This conversion is essential for producing energy in the body. The enzyme is present in five different forms, known as isoenzymes, each with a specific function and distribution within the body.

LDH levels can be altered due to various factors such as tissue damage, inflammation, and certain diseases. High LDH levels are often associated with tissue damage, while low levels can indicate a deficiency in the enzyme. Research has shown that LDH plays a role in maintaining cellular homeostasis and apoptosis, highlighting its importance in overall cellular health.

Diagnosing Abnormal Lactate Dehydrogenase Levels

Abnormal LDH levels are typically diagnosed through a blood test, which measures the total amount of LDH in the blood. The test can also be performed on other body fluids, such as cerebrospinal fluid, to help identify specific issues. For example, a study found that spinal fluid lactate dehydrogenase levels can help differentiate between structural and metabolic causes of altered mental status in children.

In some cases, further testing may be required to determine the specific isoenzyme responsible for the abnormal LDH levels. This can help identify the affected tissue or organ and guide appropriate treatment.

The Potential Benefits of Genetic Testing for Abnormal Lactate Dehydrogenase Levels

Genetic testing can provide valuable information regarding the underlying causes of abnormal LDH levels. By identifying genetic mutations or variations that may contribute to altered enzyme levels, healthcare providers can better understand the disorder and develop targeted treatment plans.

Identifying Genetic Predispositions

Some individuals may have a genetic predisposition to abnormal LDH levels due to inherited mutations or variations in the genes responsible for producing lactate dehydrogenase. Genetic testing can help identify these predispositions, allowing for early detection and intervention to mitigate potential health risks.

Targeting Treatment Options

As research advances, new treatment options targeting specific LDH isoenzymes are being developed. For example, 1,3-benzodioxole derivatives have shown potential as small molecule candidates for LDHA inhibition in cancer treatment. Genetic testing can help identify which isoenzyme is affected, allowing for the selection of targeted treatments that may be more effective and result in fewer side effects.

Monitoring Treatment Progress

Genetic testing can also be used to monitor the progress of treatment for abnormal LDH levels. By comparing genetic information before and after treatment, healthcare providers can assess the effectiveness of the chosen treatment plan and make adjustments as needed.

Conclusion

Understanding, diagnosing, and utilizing genetic testing for abnormal lactate dehydrogenase levels are crucial steps in managing and treating the underlying causes of this disorder. By staying informed about the role of LDH in the body, diagnostic methods, and the potential benefits of genetic testing, individuals and healthcare providers can work together to ensure optimal health outcomes.

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)