Inherited metabolic rare disease

Abstract

Inherited metabolic disorders (IMD) represent a vast, diverse and heterogeneous collection of around 700 genetic diseases. They are caused by rare mutations that affect the function of individual proteins and are a significant cause of morbidity and mortality, especially in childhood. Difficulties in ascertaining cases and the increasing number of new disorders have hampered efforts to accumulate exhaustive epidemiological data. Nonetheless, recent studies quote the cumulative incidence of IMDs at around 1 in 800 live births. To understand the epidemiology of IMD we will consider in this chapter two types of epidemiological approaches. The first type, or the Analytical approaches, includes the function of genetic factors in the natural history and clinical variability of the disease, as well as the role of epigenetic, stochastic and environmental factors. The second type, or the Descriptive approaches, comprises methods of case ascertainment through the diagnosis of symptomatic patients and population screening, mainly newborn and carrier screening, as well as measures of disease frequency and resources for disease control and prevention (primary, secondary and tertiary).