Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria

The study demonstrated that enzyme replacement therapy (ERT) using PEGylated cystathionine beta-synthase (PEG-CBS) significantly ameliorated multiple symptoms of homocystinuria in 1278T mice. The treatment normalized plasma sulfur amino acid profiles, improved glucose and lipid metabolism, and reduced oxidative stress and inflammation. Notably, PEG-CBS treatment prevented and reversed facial alopecia and restored the structure of the ciliary zonule in the eyes. These findings suggested that PEG-CBS could be an effective therapeutic approach for managing homocystinuria symptoms. The study involved various groups of mice, with sample sizes ranging from 3 to 13 per group.