Data on Flavoproteins Discussed by Researchers at American University of Beirut Medical Center (Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon).

A report from the American University of Beirut Medical Center discusses the diagnostic challenges and outcomes of fatty acid oxidation defects in Lebanon. Fatty acid oxidation defects are rare autosomal recessive disorders with variable clinical manifestations. The study found that most families with these defects were consanguineous (first-degree cousins) and that the majority of patients were diagnosed when clinically symptomatic. The most common defect identified was carnitine transporter deficiency, and the overall survival rate was 75% with treatment. The researchers emphasize the importance of physician awareness and systematic neonatal screening for early detection and improved outcomes. [Extracted from the article]