부산대학교 도서관

This article discusses the long-term outcomes of individuals with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, which are disorders included in newborn screening programs. The study found that while neonatal screening and early treatment improved survival rates, they did not reliably prevent long-term complications such as metabolic decompensations, cardiomyopathy, myopathy, hepatopathy, retinopathy, and neuropathy. Hospitalization rates were also high. The authors emphasize the need for better therapeutic strategies and disease-altering treatments for individuals with LCHAD/MTP deficiency. [Extracted from the article]