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Molecular Pathology in Clinical Practice pp 97–107Cite as

Molecular Genetic Testing for Metabolic Disorders

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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.

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Author information

Authors and Affiliations

  1. Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, 10029, USA

    Lisa Edelmann PhD (Assistant Professor)

  2. Molecular Laboratory, Center for Medical Genetics, Houston, TX, 77054, USA

    Yaping Yang PhD (Laboratory Director)

  3. Genetic Testing Laboratory, Department of Human Genetics, Mount Sinai School of Medicine, New York, NY, 10029, USA

    Ruth Kornreich PhD (Assistant Research, Professor and Co-Director)

Authors
  1. Lisa Edelmann PhD
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  2. Yaping Yang PhD
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  3. Ruth Kornreich PhD
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Editor information

Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA

    Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)

  2. Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Adam Bagg MD (Director) (Director)

  3. Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA

    Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)

  4. Northwestern University Feinberg School of Medicine, Evanston, IL, 60201

    Karen L. Kaul MD, PhD (Professor) (Professor)

  5. Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA

    Karen L. Kaul MD, PhD (Professor) (Professor)

  6. Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA

    Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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© 2007 Springer Science+Business Media, LLC

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Edelmann, L., Yang, Y., Kornreich, R. (2007). Molecular Genetic Testing for Metabolic Disorders. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_8

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  • DOI: https://doi.org/10.1007/978-0-387-33227-7_8

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-33226-0

  • Online ISBN: 978-0-387-33227-7

  • eBook Packages: MedicineMedicine (R0)

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