The importance of newborn screening in the prevention of rare metabolic-endocrinological disorders

Abstract

Indicating the importance of early diagnosis and treatment of diseases at the earliest age of life, newborn screening is included in the mandatory form of health care for children and is carried out in countries around the world. Newborn screening includes severe hereditary metabolic and endocrinological diseases, which do not immediately manifest themselves clinically, while in the later course they lead to impaired growth and development with a high percentage of physical and psychological disability. An early diagnosed disease enables a quick therapeutic approach so that the disease does not progress, and adequate growth and development of the child. The goal of newborn screening is the early detection of newborn diseases where early diagnosis and treatment will lead to a significant reduction in mortality, morbidity and disability. The aim of this work is to present some of the most common metabolic and endocrinological diseases that are included in the newborn screening program in Montenegro and the surrounding countries, as well as to familiarize with the complications of undiagnosed diseases in a timely manner, therapeutic possibilities and the prognosis of the disease after timely treatment.