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. 2003 Dec:162 Suppl 1:S21-4.
doi: 10.1007/s00431-003-1345-1. Epub 2003 Oct 30.

The impact of screening for propionic and methylmalonic acidaemia

James V Leonard  1 , Suresh Vijayaraghavan, John H Walter
Affiliations

The impact of screening for propionic and methylmalonic acidaemia

James V Leonard et al. Eur J Pediatr. 2003 Dec.

Abstract

The outcome of the severe variants of propionic and methylmalonic acidaemia is not good. Patients with these disorders have increased concentrations of propionylcarnitine and using tandem mass spectrometry to detect this compound, it is possible to screen in the newborn period. Various criteria have been used to identify the patients but only a small number of patients have been diagnosed so far and some have been missed. Furthermore many will have already presented before the result of the screening test is available.

Conclusion: It is not yet clear whether the outcome is better for those identified in screening programmes.

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