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Retracted: Brain Damage in Phenylalanine, Homocysteine and Galactose Metabolic Disorders

  • Kleopatra H. Schulpis
  • Stylianos Tsakiris
Chapter

Introduction

Inherited metabolic diseases have become a major cause of neonatal pathology, as the classical causes of neonatal distress have been markedly diminished by advances in obstetrical, prenatal, and perinatal management. Their incidence may well be underestimated, since diagnostic errors are frequent. Nevertheless, accurate diagnosis is essential to provide genetic counseling and prenatal diagnosis of ­subsequent pregnancies, particularly because some of these conditions have an excellent response to therapy.

Inborn errors of metabolism are individually rare but are collectively numerous. Many of them present early in the neonatal period, have a rapid fatal course and, as a whole, cannot be recognized through systematic screening tests which are too slow, too expensive, and unreliable. This makes it an absolute necessity to teach primary care physicians a simple method of clinical screening before making decisions about sophisticated biochemical investigations. Clinical...

Keywords

Homocysteine Level tHcy Level Phenylalanine Level tHcy Concentration Tyrosine Level 
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.

Notes

Acknowledgments

The authors are highly indebted to Mrs. Anna Stamatis and Mrs. Kalliopi Tassopoulou for their carefull typing of this manuscript. Many thanks are extended to Alexios Mentis, a medical student, for his significant help in preparing this work.

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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Kleopatra H. Schulpis
    • 1
  • Stylianos Tsakiris
    • 2
  1. 1.Inborn Errors of Metabolism Department, Institute of Child Health, Research Centre“Aghia Sophia” Childrens HospitalAthensGreece
  2. 2.Department of Physiology, Medical SchoolUniversity of AthensAthensGreece

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