Diagnosis Service for Acylcarnitine Profile

Analysis of body fluid metabolites with the tandem mass (MS/MS) technology just occurs recently. There are more than 20 amino acids in human, and all share a common molecular structure. Therefore we can scan all the amino acids with one function in the MS/MS analysis. When fatty acids are transported into the mitochondria, carnitine is a carrier. Therefore, by analyzing the acylcarnitine profile, we can know both the distribution of fatty and certain organic acids. Combining these two tests makes up the cuurent MS/MS analysis. Around 20 diseases may be discovered by this technique. Previously, plasma amino acid analysis and ruine organic acid analysis are both tedious and expensive. Mover, fatty acid oxidation defect totally depends on this test.

Regardless the importance of MS/Ms analysis, we are not able to get insurance reimbursement. Neonatal screening with MS/MS just starts and there are a lot of babies not screened. Therefore, we want to offer this test without extra-expense. Since this test is very complicated and expensive, currently we can only get NT1500 from DOH, which doesn't meet our cost. Therefore in this project we want to get the support from TFRD, to support this test. We want to make the test free of cost to the referring doctor, to decrease their paper work and to increase their motivation to send test.

In the latter half of 2004, we performed 467 tests for MS/MS. Among them 246, more than half of the total tests, were referred from other hospitals. There were more than 10 hospitals who regularly send MS/MS test to our lab. For all of them we can send back the result within the defined time frame. This test helps a lot the diagnosis and follow-up of patients with inborn errors. We hae made initial diagnosis for diseases including 3-methyl-glutaconic aciduria, MSUD, citrullinemia type 2, and isoveleric acidemia, which demonstrates the value of the test. We hope this system can be continue in the future.