2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Long-Chain Fatty Acid Oxidation Disorder Genotypes, Clinical Signs and Symptoms, and Newborn Screening History from a Gene Panel Sponsored Program

Long-Chain Fatty Acid Oxidation Disorder Genotypes, Clinical Signs and Symptoms, and Newborn Screening History from a Gene Panel Sponsored Program

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Pdf Summary

Long-chain fatty acid oxidation disorders (LC-FAOD) are rare metabolic disorders that result in the inability to convert long-chain fats into energy. This leads to serious consequences as the body cannot produce ATP efficiently. LC-FAOD is caused by mutations in nuclear genes that encode mitochondrial proteins necessary for energy production. Diagnosis of LC-FAOD can be suspected based on clinical symptoms or positive results from newborn screening and can be confirmed through plasma acylcarnitine analysis and molecular testing.<br /><br />People with LC-FAOD may experience symptoms such as muscle pain, muscle weakness, low blood sugar, and fatigue when sugar or glucose levels are low. The breakdown of fatty acids is essential for energy production, and without it, various manifestations can occur, including rhabdomyolysis, hypotonia/weakness, exercise intolerance, cardiomyopathy, and hepatomegaly.<br /><br />A study performed genetic testing on 796 patients with suspected or known LC-FAOD. The results showed that 52% of patients had pathogenic or likely pathogenic gene variants, while 48% had variants of uncertain significance. The study also found that the genetic diagnosis rate varied depending on the age of the patients.<br /><br />The findings of the study highlight the importance of genetic testing for diagnosing LC-FAOD, as it can provide valuable information for disease management and treatment. The study also emphasizes the need for increased awareness and screening for LC-FAOD, particularly in individuals who may have missed newborn screening for the disorder.<br /><br />Overall, this study provides insights into the genotypes, clinical signs, and symptoms of LC-FAOD, as well as the importance of genetic testing in diagnosing and managing the disorder.

Asset Subtitle

Presenting Author - Vanessa Rangel Miller, MS, MBA, CGC; Co-Author - Heather McLaughlin, PhD, FACMG; Co-Author - Deborah Marsden, MBBS, FACMG; Co-Author - Omid K. Japalaghi, MS; Co-Author - Nicole Miller, PhD;

Meta Tag

Genetic Testing

Metabolic Disorder

Variant Detection

Co-Author Heather McLaughlin, PhD, FACMG

Co-Author Deborah Marsden, MBBS, FACMG

Co-Author Omid K. Japalaghi, MS

Co-Author Nicole Miller, PhD

Presenting Author Vanessa Rangel Miller, MS, MBA, CGC

Keywords

Long-chain fatty acid oxidation disorders

LC-FAOD

metabolic disorders

energy production

mutations in nuclear genes

diagnosis of LC-FAOD

plasma acylcarnitine analysis

molecular testing

symptoms of LC-FAOD

genetic testing for LC-FAOD