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Newborn Screening Programmes in Europe, Arguments and Efforts Regarding
Harmonisation: Focus on Organic Acidurias
#MMPMID27344647
Hörster F
; Kölker S
; Loeber JG
; Cornel MC
; Hoffmann GF
; Burgard P
JIMD Rep
2017[]; 32
(?): 105-115
PMID27344647
show ga
BACKGROUND: The state of newborn screening (NBS) programmes for organic acidurias
in Europe was assessed by a web-based questionnaire in the EU programme of
Community Action in Public Health 2010/2011 among the - at that time - 27 EU
member states, candidate countries, potential candidates and three EFTA
countries. RESULTS: Thirty-seven data sets from 39 target countries were
analysed. Newborn screening for glutaric aciduria type I (GA-I) was performed in
ten, for isovaleric aciduria (IVA) in nine and for methylmalonic aciduria
including cblA, cblB, cblC and cblD (MMACBL) as well as for propionic aciduria
(PA) in seven countries. Samples were obtained at a median age of 2.5 days and
laboratory analysis began at median age of 4.5 days. Positive screening results
were mostly confirmed in specialised centres by analysis of organic acids in
urine. Confirmation of a positive screening result usually did not start before
the second week of life (median ages: 9.5 days [IVA], 9 days [GA-I], 8.5 days
[PA, MMACBL]) and was completed early in the third week of life (median ages: 15
days [IVA, PA, MMA], 14.5 days [GA-I]). Treatment was initiated in GA-I and IVA
at a median age of 14 days and in MMACBL and PA at a median age of 15 days.
CONCLUSION: NBS for organic acidurias in Europe is variable and less often
established than for amino acid disorders. While for GA-I its benefit has already
been demonstrated, there is room for debate of NBS for IVA and especially PA and
MMACBL.
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