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Disorders of Organic Acid and Amino Acid Metabolism

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Textbook of Clinical Pediatrics

A large number of pediatric disorders occur as a result of inborn errors occurring in the metabolic pathways of amino acids or organic acids. These diseases are common pediatric problems with dramatic clinical presentations. Their initial clinical presentations differ according to age. A convenient manner of classification is as follows:

  1. 1.

    Diseases of neonatal onset. The first clinical symptoms appear soon after birth or within the first few weeks of life. Such diseases are always associated with central nervous system (CNS) symptoms. Occasionally an infant will be born with an encephalopathic picture and stupor, with profoundly disturbed neurologic function at birth. More often, an infant normal at birth will soon develop lethargy, progressing rapidly into coma in association with other severe neurologic signs. The disease will cause neurologic handicaps and death if intervention is not prompt. These diseases are therefore called “devastating metabolic diseases of the newborn.” In...

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Acknowledgments

Excellent and detailed reviews of the diseases discussed in this chapter can be found in The Metabolic and Molecular Bases of Inherited Disease edited by C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (New York, McGraw-Hill, 7th edition 1995). Suggested reading material for important aspects of each disease presented is listed in the sections below.

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Authors and Affiliations

  1. Department of Genetics, King Faisal Specialist Hospital, P.O. Box 3354, Riyadh, 11211, Saudi Arabia

    Pinar T. Ozand (Professor)

  2. Department of Pediatrics and Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia

    Pinar T. Ozand (Professor)

  3. Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia

    Mohammed Al-Essa

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  1. Pinar T. Ozand
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  2. Mohammed Al-Essa
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Correspondence to Pinar T. Ozand .

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Editors and Affiliations

  1. Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia

    Abdelaziz Y. Elzouki (Professor of Pediatrics) (Professor of Pediatrics)

  2. National Center of Allergy, Asthma & Immunology (NCAAI), Riyadh, Saudi Arabia

    Harb A. Harfi (Director) (Director)

  3. Consultant Pediatric Gastroenterology & Hepatology, Islamic Hospital, Amman, Jordan

    Hisham M. Nazer

  4. Seattle Children's Hospital University of Washington, School of Medicine, Seattle, WA, USA

    F. Bruder Stapleton (Professor and Chair Department of Pediatrics) (Professor and Chair Department of Pediatrics)

  5. Alpert Medical School of Brown University, Woman and Infants Hospital, Providence, RI, USA

    William Oh (Professor of Pediatrics) (Professor of Pediatrics)

  6. University of Alabama, Birmingham, AL, USA

    Richard J. Whitley (Professor of Pediatrics) (Professor of Pediatrics)

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© 2012 Springer-Verlag Berlin Heidelberg

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Ozand, P.T., Al-Essa, M. (2012). Disorders of Organic Acid and Amino Acid Metabolism. In: Elzouki, A.Y., Harfi, H.A., Nazer, H.M., Stapleton, F.B., Oh, W., Whitley, R.J. (eds) Textbook of Clinical Pediatrics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02202-9_38

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  • DOI: https://doi.org/10.1007/978-3-642-02202-9_38

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-02201-2

  • Online ISBN: 978-3-642-02202-9

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