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Eur J Pediatr. 2003 Dec;162 Suppl 1:S21-4. Epub 2003 Oct 30.

The impact of screening for propionic and methylmalonic acidaemia.

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  • 1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30, Guilford Street, WC1N 1EH, London, UK. J.Leonard@ich.ucl.ac.uk


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.


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

[PubMed - indexed for MEDLINE]
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