부산대학교 도서관

Some of the presenting features of homocystinuria include chest deformities such as pectus carinatum, marfanoid habitus, ectopia lentis, intellectual disability, and stroke. They demonstrated that homocysteine inhibited the activity of tyrosinase in human cultured melanocytes in vitro.[[3]] They postulated that normalization of homocysteine level after therapy reversed this inhibition and caused hair color to darken. Reish et al. treated a 23-year-old woman with homocystinuria.[[2]] She was treated with pyridoxine, and there was darkening of her blond hair 6 weeks after initiation of therapy. [Extracted from the article]