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Metabolic Disorders in Childhood

  • Chapter
Pathology of Pediatric Gastrointestinal and Liver Disease

Abstract

Recent technological advances have enabled a comprehensive study of molecular events and enriched our understanding of genetic metabolic diseases. These relatively uncommon disorders are inherited recessively with an often nonspecific clinical presentation. Their diagnosis requires the exclusion of more common events, multiple subspecialty consultations, and reference laboratory expertise. Early diagnosis and detection may greatly improve the outcome. Many patients are responsive to dietary management or enzyme replacement therapies. Carrier detection and prenatal screening allow for future considerations.

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Authors
  1. Gareth P. Jevon
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  2. James E. Dimmick
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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA

    Pierre Russo MD (Associate Professor, Director) & Eduardo D. Ruchelli MD (Assistant Professor) (Associate Professor, Director) &  (Assistant Professor)

  2. Division of Anatomic Pathology, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    Pierre Russo MD (Associate Professor, Director) (Associate Professor, Director)

  3. Staff Pathologist, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    Eduardo D. Ruchelli MD (Assistant Professor) (Assistant Professor)

  4. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA

    David A. Piccoli MD (Professor, Division Chief) (Professor, Division Chief)

  5. Gastroenterology and Nutrition, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    David A. Piccoli MD (Professor, Division Chief) (Professor, Division Chief)

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Jevon, G.P., Dimmick, J.E. (2004). Metabolic Disorders in Childhood. In: Russo, P., Ruchelli, E.D., Piccoli, D.A. (eds) Pathology of Pediatric Gastrointestinal and Liver Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-9066-2_12

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