Benefits of early recognition and treatment of inherited metabolic diseases in children

Abstract:

The number of inherited metabolic diseases is steadily increasing. They present in all age groups, but usually already in childhood. Due to their low incidence, physicians have limited experience with them. Thus, many patients remain underdiagnosed or are diagnosed late in the course of disease, which then often leads to fatal outcome or other irreversible consequences. With the recent development of new treatments, the need for early diagnosis of inherited metabolic diseases has become more pronounced. Although the advanced technology has allowed for extensive neonatal screening in the last decade and made the diagnostic procedure easier, the diagnosis still depends on the knowledge and proper diagnostic approach of health care professionals, particularly physicians. In addition, for the benefit of patients with inherited metabolic diseases, the efforts of medical staff should be complemented by continuing support from the whole community

Key words:
early diagnosis; metabolic diseases; metabolism, inborn errors; neonatal screening; prognosis