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Newborn Screening and High Risk Screening Population for Neurological Inherited Metabolic Diseases

  • Alberto Burlina
  • Giulia Polo
Chapter

Abstract

Nowadays, it is possible to carry on screening tests for many of the inherited metabolic disorders currently recognized. Laboratory investigations are complex and susceptible to technical problems. Since 1970s, batteries of relatively inexpensive tests named screening for metabolic diseases that can be carried out rapidly on a large numbers of specimens have been developed.

Metabolic screening is different according to the age of patients. In the neonatal period, this approach represents an example of epidemiological/medical intervention, which allows to identify neonates affected by a specific disease before the development of clinical signs of the condition, with the objective of initiating a treatment that would prevent serious disability or even death. Nowdays, expanded newborn screening based on tandem mass spectrometry technique allows the identification more than 60 diseases. This technique identifies defects of amino acids, organic acids, urea cycle, fatty acid oxidation metabolism, lysosomal diseases and peroxisomal diseases.

Subsequently, high risk population screening can be performed in order to identify the disease (diagnosis) even the specific therapeutical intervention might not be expected to alter the natural history of the disease. However, the process is initiated by the patient presenting symptoms. This approach has been proposed for mitochondrial and lysosomal diseases and neurodegenerative disorders.

Keywords

Inherited metabolic diseases Expanded neonatal screening Selective screening Aminoacid disorders Organic acidurias Urea cycle defects Lysosomal disorders Fatty acid defects Stroke Neurodegenerative disorders 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Woman’s and Child’s HealthUniversity HospitalPadovaItaly

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