Newborn Screening for Lysosomal Storage Disorders

  • C. Ronald Scott
  • Frantisek Turecek
  • Michael H. Gelb

Screening newborn infants for treatable metabolic diseases has been in existence for over four decades. It was initiated by Dr. Robert McCready in 1962 in the Massachusetts Department of Public Health and was based on the work of Dr. Robert Guthrie for the detection of phenylketonuria. The initiation of screening for phenylketonuria and its subsequent expansion to include congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, biotinidase deficiency, and hemoglobin abnormalities has had a profound effect in preventing the serious consequences from these disorders in susceptible individuals (for review, see Levy and Albers, 2000). The basis of newborn screening is founded on the availability of a simple test that can be performed on a drop of blood obtained from an infant. In practice, several drops of blood are obtained from the infant near the time of birth, placed on specific filter papers, and submitted to the laboratory for analysis. Thus, the simple availability of a blood spot is both the power and limitation behind newborn screening. The limitation is devising techniques for the detection of some disorders that may more easily be detected by using a different biologic specimen. Wilson and Junger (1968) outlined the principles that needed to be met to have a successful candidate for newborn screening. This was prepared as a statement of the World Health Organization (WHO).


Enzyme Replacement Therapy Fabry Disease Congenital Adrenal Hyperplasia Newborn Screening Gauche Disease 


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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • C. Ronald Scott
    • 1
  • Frantisek Turecek
    • 2
  • Michael H. Gelb
    • 3
  1. 1.Department of PediatricsUniversity of WashingtonSeattleUSA
  2. 2.Department of ChemistryUniversity of WashingtonSeattleUSA
  3. 3.Department of BiochemistryUniversity of WashingtonSeattleUSA

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