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Inherited Metabolic Rare Disease

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Rare Diseases Epidemiology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 686))

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).

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Acknowledgements

I would like to thank Dr. Antonia Ribes for helpful discussion and critical appraising of this manuscript.

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  1. Institut de Bioquímica Clínica, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

    Teresa Pampols

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  1. , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Monforte de Lemos 5, Madrid, 28029, Spain

    Manuel Posada de la Paz

  2. , Office of Rare Diseases Research, National Institutes of Health, Executive Boulevard 6100, Bethesda, 20892-7518, USA

    Stephen C. Groft

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Pampols, T. (2010). Inherited Metabolic Rare Disease. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_23

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