Newborn screening of lysosomal storage disorders.

[krabbe disease]

Newborn screening is a state -based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality . The program was initiated more than 40 years ago to detect and prevent phenylketonuria . Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism . Consideration is now being given to inclusion of screening for lysosomal storage disorders (LSDs ).Some lysosomal storage disorders (LSDs ) express early in infancy or childhood and are treatable . Initiation of treatment in presymptomatic patients or in syptomatic patients before important symptoms are present may improve the long -term outcome . Therefore , early diagnosis is critical . Based on the availability of therapy and development of a screening method , 6 of the more than 40 known LSDs are candidates for newborn screening in the US : Gaucher disease , Pompe disease , Fabry disease , Niemann-Pick disease , mucopolysaccharidosis I , and Krabbe disease . This report reviews the history of newborn screening , the technology that has allowed for expanded screening during the last decade , LSDs and their treatment , and the evolving methods that might allow additional expansion of newborn screening to include certain LSDs .Recent and evolving technological advances may be implemented for newborn screening for LSDs . This screening will identify presymptomatic newborns , allowing for early treatment and prevention or limitation of morbidity otherwise associated with these inherited rare diseases .

Diseases
Validation

Diseases presenting "expanded screening during the last decade" symptom

krabbe disease

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