The terms inborn errors of metabolism, genetic metabolic disease, disorders of intermediary metabolism, and inherited metabolic disease are used interchangeably. For the sake of clarity, inborn errors of metabolism (IEMs) is used in this chapter. The common feature of these disorders is a genetically determined interruption in one (or several related) metabolic pathway. This results in clinical symptoms caused by deficiency of the pathway product or toxicity resulting from the accumulation of an intermediary compound (Fig. 7.1). Inborn errors of metabolism are mostly genetically recessive disorders with clinical symptoms rare in heterozygous individuals. The molecular pathology of IEMs usually involve homozygous (autosomal) or hemizygous (X-linked) loss of function mutations in genes encoding proteins with a single enzymatic function. This chapter catalogues the main modes of presentation of genetic metabolic disease during fetal and neonatal life and currently available laboratory diagnostic tools. It should be noted that new phenotypes and diagnostic techniques are continually evolving and online services, such as the On-Line Men-delian Inheritance in Man (OMIM) (see Appendix 7.1), can be a very helpful adjunct to hardcopy reference texts.
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FitzPatrick, D.R. (2007). Genetic Metabolic Disease. In: Keeling, J.W., Khong, T.Y. (eds) Fetal and Neonatal Pathology. Springer, London. https://doi.org/10.1007/978-1-84628-743-5_7
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DOI: https://doi.org/10.1007/978-1-84628-743-5_7
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