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Prenatal Diagnosis of Inborn Errors of Metabolism

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Book cover Medical Biomethods Handbook

Part of the book series: Springer Protocols Handbooks ((SPH))

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Abstract

Inborn errors of metabolism are inherited conditions where there is a defect or block in a metabolic pathway leading to the accumulation of metabolite(s) proximal to the defect and a metabolic deficit distal to this (1). The defect usually results from a specific enzyme deficiency; however, defects in enzyme cofactors or activators/stabilisers can also lead to an enzyme deficiency in vivo. There might also be defects in certain transporter systems, at the plasma membrane level or within cellular compartments, which will also lead to metabolic disorders.

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Author information

Authors and Affiliations

  1. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK

    Guy T. N. Besley

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  1. Guy T. N. Besley
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  1. University of Hertfordshire, Hatfield, UK

    John M. Walker  & Ralph Rapley  & 

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© 2005 Humana Press Inc., Totowa, NJ

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Besley, G.T.N. (2005). Prenatal Diagnosis of Inborn Errors of Metabolism. In: Walker, J.M., Rapley, R. (eds) Medical Biomethods Handbook. Springer Protocols Handbooks. Humana Press. https://doi.org/10.1385/1-59259-870-6:607

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  • DOI: https://doi.org/10.1385/1-59259-870-6:607

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-288-9

  • Online ISBN: 978-1-59259-870-0

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