Understanding, Diagnosing, and Using Genetic Testing for Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy (MTPD2) is a rare genetic disorder that affects the body’s ability to produce energy. This condition can cause severe muscle weakness, nerve damage, and other serious health problems. In this article, we will explore the genetics of MTPD2, how it is diagnosed, and the role of genetic testing in managing this disorder.

Understanding Mitochondrial Trifunctional Protein Deficiency 2

MTPD2 is caused by mutations in the HADHA and HADHB genes. These genes provide instructions for making two proteins that work together to form the mitochondrial trifunctional protein (MTP), which plays a crucial role in breaking down fats for energy production. When there is a deficiency in MTP, the body cannot properly process fats, leading to a buildup of toxic substances and a shortage of energy.

Individuals with MTPD2 can experience a wide range of symptoms, including muscle weakness, difficulty breathing, nerve damage, and abnormalities in the heart, liver, and kidneys. The severity of the condition can vary greatly among affected individuals, and some may experience life-threatening complications.

Diagnosing Mitochondrial Trifunctional Protein Deficiency 2

Diagnosing MTPD2 can be challenging due to the rarity of the condition and the wide range of symptoms that may be present. However, several tests can be used to help identify the disorder:

• Blood tests: Elevated levels of certain enzymes and fatty acids in the blood can be indicative of MTPD2.
• Urine tests: Abnormal levels of organic acids in the urine can also suggest the presence of the disorder.
• Muscle biopsy: A small sample of muscle tissue can be examined for signs of damage and abnormal fat accumulation.
• Genetic testing: As MTPD2 is a genetic disorder, testing for mutations in the HADHA and HADHB genes can confirm a diagnosis.

Genetic Testing for Mitochondrial Trifunctional Protein Deficiency 2

Genetic testing can be a valuable tool in diagnosing and managing MTPD2. There are several ways in which genetic testing can be helpful:

Confirming a Diagnosis

As mentioned earlier, genetic testing can be used to confirm a diagnosis of MTPD2 by identifying mutations in the HADHA and HADHB genes. This can be particularly useful in cases where the clinical presentation of the disorder is unclear or when other diagnostic tests are inconclusive.

Carrier Testing

MTPD2 is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carrier testing can be performed to determine if an individual is a carrier of a mutated HADHA or HADHB gene. This information can be vital for couples who are planning a family and have a family history of MTPD2 or are at risk for passing the disorder on to their children.

Prenatal and Preimplantation Genetic Testing

For couples who are at risk of having a child with MTPD2, prenatal genetic testing can be performed to determine if the fetus has inherited the mutated genes. This can help families make informed decisions about their pregnancy and prepare for the potential challenges of raising a child with MTPD2. Additionally, preimplantation genetic testing can be performed during in vitro fertilization (IVF) to select embryos without the mutated genes for implantation, reducing the risk of having a child with the disorder.

Guiding Treatment and Management

While there is currently no cure for MTPD2, early diagnosis and intervention can help improve the quality of life for affected individuals. Genetic testing can help guide treatment and management strategies by providing information about the specific mutations present and their potential impact on the severity of the disorder. This can help healthcare providers tailor treatments to the individual’s unique needs and monitor for potential complications.

In conclusion, understanding, diagnosing, and using genetic testing for Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy is crucial for improving the lives of those affected by this rare and complex genetic disorder. By utilizing the power of genetic testing, we can work towards more accurate diagnoses, better management strategies, and ultimately, a brighter future for those living with MTPD2.

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)