What is it about?
Lysosomal storage diseases are a group of rare diseases. Detect their enzyme activity in the blood sample can help doctors to diagnose them. Here, we have developed a fast method and screened 100000 newborn babies and check the suspected cases’ gene, we found 64 Fabry disease cases, 16 infantile or late-onset Pompe disease patients, and 1 Gaucher disease case.
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Why is it important?
Newborn screening of lysosomal storage diseases is appropriate to identify patients earlier and gene analysis is useful for genetic counseling. This early diagnosis information can help doctors and parents to take care their children more carefully.
Perspectives
Enzyme replace therapy has been shown positive effect in reducing some lysosomal storage diseases symptoms. Thus it is important to diagnose this disease early and to begin effective therapy before other irreversible damage occur.
Wei-De Lin
China Medical University
Read the Original
This page is a summary of: Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan, Clinica Chimica Acta, April 2014, Elsevier,
DOI: 10.1016/j.cca.2014.01.030.
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