Genetic disorders that involve the body‘s inability to produce or use an enzyme or transport protein necessary for oxidizing fatty acids fall into a broad category of lipid metabolism disorders. These conditions are classified as inborn errors of lipid metabolism and, when they impact the muscles, also as metabolic myopathies. In these disorders, the enzyme or transport protein may be either absent or defective, impairing the body‘s ability to generate energy from fatty acids in the liver and muscles.

Today, most cases of fatty acid oxidation disorders (FAODs) are detected through newborn screening using tandem mass spectrometry (MS/MS) of blood spots. Pregnancies involving mothers who are heterozygous for FAOD have been linked to the development of severe pre-eclampsia, acute fatty liver of pregnancy, and HELLP syndrome (characterized by hemolysis, elevated liver enzymes, and low platelets) in the mothers, as well as intrauterine growth retardation in the infants.

Causes

Fatty-acid metabolism disorders occur when both parents of the affected individual carry a defective gene, classifying the condition as an autosomal recessive disorder. For the disease to manifest, both copies of the gene must be defective. If only one defective gene is present, the individual is a carrier but shows no symptoms. When both copies of the gene are mutated, the individual will exhibit symptoms. As with most autosomal recessive disorders, if both parents are carriers, each child has a 25% chance of inheriting the disease.

Diagnosis

Prenatal diagnosis of fatty acid oxidation disorders (FAODs) is performed using biochemical or molecular methods after chorionic villus sampling or amniocentesis. When the specific molecular defect has been identified in the affected family member, mutation analysis is the preferred method. Prenatal testing is especially important if there is a history of maternal liver disease complicating previous pregnancies.

 

Clinical utility:

• Accurate Diagnosis: Identifies specific genetic variants associated with FAD conditions for precise diagnosis.

• Risk Assessment and Prognosis: Detects genetic variants linked to increased risk, enabling early identification and personalized monitoring.

• Family Screening and Genetic Counseling: Facilitates screening of family members for risk assessment and enables informed family planning decisions.

• Personalized Care: Allows tailored interventions and preventive measures based on individual genetic profiles.

• Improved Patient Outcomes: Enhances patient care through precise diagnoses and proactive risk management.

 

MapmyGenome Offerings

MapmyGenome’s Comprehensive Cardiology Panel offers a comprehensive genetic analysis tailored to your FAD related health needs. Our offerings include:

1. Complete Gene Panel Analysis: We analyze a wide array of genes associated with cardiovascular diseases, ensuring that no significant genetic factors are overlooked.

2. Detailed Report and Interpretation: Each panel comes with a detailed report that includes an interpretation of the genetic variants found, their clinical significance, and personalized recommendations for management and care.

3. Genetic Counseling: We provide access to genetic counselors who can help you understand your results, discuss the implications for your health, and assist with any necessary lifestyle or treatment changes.

4. Family Screening Options: For those concerned about hereditary risks, we offer family screening packages that allow you to assess the cardiovascular risk for your loved ones.

5. Ongoing Support: MapmyGenome provides ongoing support to help you manage your health effectively, including updates on the latest research and recommendations based on your genetic profile.