Keywords
Abstract
Ushbu maqolada aminokislotalar almashinuvining buzilishi bilan bog‘liq genetik kasalliklar tizimli tarzda tahlil qilinadi. Aminokislotalarning normal metabolizmi organizmning hayotiy jarayonlari uchun muhim ahamiyatga ega bo‘lib, uning buzilishi turli klinik simptomlar va surunkali kasalliklarni keltirib chiqaradi. Fenilketonuriya, homosistinuriya, tirozinemiya va boshqa metabolik buzilishlar nevrologik buzilishlar, jigar va buyrak disfunktsiyalari hamda kardiometabolik muammolar bilan bog‘liq ekanligi aniqlangan.
Maqolada ushbu kasalliklarning patofiziologiyasi, molekulyar mexanizmlari, genetik asoslari va diagnostika usullari batafsil ko‘rib chiqiladi. Shu bilan birga, genetik testlar va metabolik monitoring orqali kasalliklarni erta aniqlash, individual davolash strategiyalarini ishlab chiqish imkoniyatlari muhokama qilinadi.
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