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Molecular Genetic Testing for Metabolic Disorders

  • Lisa Edelmann
  • Yaping Yang
  • Ruth Kornreich
Chapter
  • 1.7k Downloads

Abstract

Inborn errors of metabolism represent a highly diverse group of genetic disorders. Individually the disorders are rare. The most prevalent, phenylketonuria (PKU), affects approximately 1 in 10,000 individuals. However, because numerous metabolic disorders exist, collectively they are estimated to affect as many as 1 in 600 individuals. The clinical consequences of such disorders are broad and can be severe, with progressive neurological impairment, mental retardation (MR), organomegaly, and high morbidity. Their mode of inheritance is usually autosomal recessive but also can be Xlinked. Metabolic disorders result from defects in the individual enzymes of pathways that govern many different aspects of metabolism in distinct compartments within the cell.

Keywords

Gauche Disease Glycogen Storage Disease Carrier Screening Molecular Genetic Testing Canavan Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Lisa Edelmann
    • 1
  • Yaping Yang
    • 2
  • Ruth Kornreich
    • 3
  1. 1.Department of Human GeneticsMount Sinai School of MedicineNew YorkUSA
  2. 2.Molecular LaboratoryCenter for Medical GeneticsHoustonUSA
  3. 3.Genetic Testing Laboratory, Department of Human GeneticsMount Sinai School of MedicineNew YorkUSA

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