Prenatal Diagnosis of Inborn Errors of Metabolism

  • Guy T. N. Besley
Part of the Springer Protocols Handbooks book series (SPH)


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.


Amniotic Fluid Prenatal Diagnosis Chorionic Villus Purine Nucleoside Phosphorylase Maple Syrup Urine Disease 
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Copyright information

© Humana Press Inc., Totowa, NJ 2005

Authors and Affiliations

  • Guy T. N. Besley
    • 1
  1. 1.Willink Biochemical Genetics UnitRoyal Manchester Children’s HospitalManchesterUK

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