The impact of screening for propionic and methylmalonic acidaemia.
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.


CONCLUSIONS
It is not yet clear whether the outcome is better for those identified in screening programmes.
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30, Guilford Street, WC1N 1EH, London, UK. J.Leonard@ich.ucl.ac.uk
James V
JV
Leonard
Suresh
S
Vijayaraghavan
John H
JH
Walter
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000401:mortality; D004044:Dietary Proteins / Q000008:administration & dosage; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry; D008764:Methylmalonic Acid / Q000097:blood*; D011379:Prognosis; D011422:Propionates / Q000097:blood*; D013997:Time Factors
D004044:Dietary Proteins; D011422:Propionates; D008764:Methylmalonic Acid; C029658:propionic acid