Neonatal screening of lysosomal storage diseases [LSD]: hope for the future

ABSTRACT

It is well known that the best public health effort in genetics is the government programs that carry out population screening of all newborns to identify infants with genetic disorders for which early treatment can prevent or at least ameliorate that consequence. The concept of screening newborns for inherited metabolic disorders was the brainchild of Robert Guthrie, an upstate New York microbiologist with a passion to prevent the devastating and irreversible neurological damage sustained by victims of untreated phenylketonuria [PKU]. The solution he developed was a simple and inexpensive bacterial inhibition assay for phenylalanine in blood. Lysosomal storage disorders [LSDs] represent a group of more than 45 distinct genetic diseases, each one resulting from a deficiency of a particular lysosomal protein or, in a few cases, from nonlysosomal proteins that are involved in lysosomal biogenesis. 1- Availability of treatment for LSD and advantages of early detection 2-Frequency of LSDs in population 3- Availability of screening tests