[Detection of inborn errors of metabolism: guidelines in Mexico and other countries].

Abstract

Inborn errors of metabolism (IEM), also known as inherited metabolic disorders, are rare but associated with significant morbidity and mortality. The incidence is variable in all regions, worldwide it ranges from 1 in 569 to 2500 live births (LBI). The objective of this work was to carry out a narrative review to identify the guidelines that guide the detection of EIMs through official sources from various countries. A total of 13 documents were identified, including protocols, books, manuals, programs and 4 official websites for the detection of EIMs. In general, there is variability in the selection of EIMs that are detected, from 4 to 61 EIMs, primary congenital hypothyroidism and pheniceltonuria are the two EIMs that are included in most screening programs, spinal atrophy and severe combined immunodeficiency are detected less frequently, the incidence of each EIM is variable between countries and even between states of the same country, with congenital hypothyroidism being the most common. The guidelines for the selection of EIMs are determined by the internal policies of each country, the incidence and economic resources. There is no universal standard for the detection of EIMs, but they all pursue the same purpose: detection, diagnosis and timely treatment. In parallel, it allows us to estimate with greater precision the frequency of these disorders.