Metabolic Studies

Mirna Lechpammer; Marc Del Bigio; Rebecca Folkerth

doi:10.1017/9781316671863.008

Chapter 7 - Metabolic Studies

from Ancillary Studies

Published online by Cambridge University Press: 07 August 2021

Marc Del Bigio and

Mirna Lechpammer: Affiliation:
New York University School of Medicine
Marc Del Bigio: Affiliation:
University of Manitoba, Canada
Rebecca Folkerth: Affiliation:
New York University School of Medicine

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Summary

Inborn errors of metabolism (IEM), also known as inherited metabolic disorders, are a diverse group consisting of over a thousand different diseases. These are caused by various genetic mutations that result in enzyme deficiency or inactivity, leading to the accumulation of substrate precursors or metabolites, or to enzyme product deficiencies (Table 7.1). The prevalence of individual IEM is low; however the estimated cumulative prevalence of this whole group of disorders is estimated to be 50.9 per 100,000 live births. Most IEMs are inherited in an autosomal recessive manner; however, some conditions are transferred via autosomal dominant or X-linked inheritance [1, 2]. The estimated death rate for IEM is 3.2 per 100,000 globally, with significant differences between developed countries and low-income regions that often lack resources needed for early diagnosis and advanced treatment and care of affected patients [3].

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Type: Chapter
Information: Perinatal Neuropathology , pp. 31 - 38

DOI: https://doi.org/10.1017/9781316671863.008 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2021

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