CLINICAL APPROACH TO THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM (IEM)

Abstract

In this article the authors present: – what are IEMs? – what are the different types of IEMs? – what is the relative frequency of these IEMs? – what is the inheritance pattern of these IEMs? – how can these IEMs be diagnosed in a timely manner? – what is the role of newborn screening (NS) programe in early diagnosis and prevention of morbidity and mortality? – what are the treatment and management options for these IEMs? – what is the long-term prognosis for patients with IEMs?

Keywords

• inborn errors of metabolism
• clinical approach to the diagnosis
• child