Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: what to aim, expect and evaluate from newborn screening?
Haijes, H A; Molema, F; Langeveld, M; Janssen, M C; Bosch, A M; van Spronsen, F J; Mulder, M F; Verhoeven-Duif, N M; Jans, J J M; van der Ploeg, A T; Wagenmakers, M A; Rubio-Gozalbo, M E; Brouwers, M C G J; de Vries, M C; Langendonk, J G; Williams, M; van Hasselt, P M
(2020) Journal of Inherited Metabolic Disease, volume 43, issue 3, pp. 424 - 437
(Article)
Abstract
Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clinical course of 76/83 Dutch
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PA and MMA patients, diagnosed between January 1979 and July 2019, was evaluated. Five clinical outcome parameters were defined: adverse outcome of the first symptomatic phase, frequency of acute metabolic decompensations (AMD), cognitive function, mitochondrial complications, and treatment-related complications. Outcomes of patients identified by family testing were compared with the outcomes of their index siblings. An adverse outcome due to the first symptomatic phase was recorded in 46% of the clinically diagnosed patients. Outcome of the first symptomatic phase was similar in 5/9 sibling pairs and better in 4/9 pairs. Based on the day of diagnosis of the clinically diagnosed patients and sibling pair analysis, a preliminary estimated reduction of adverse outcome due to the first symptomatic phase from 46% to 36%-38% was calculated. Among the sibling pairs, AMD frequency, cognitive function, mitochondrial, and treatment-related complications were comparable. These results suggest that the health gain of NBS for PA and MMA in overall outcome may be limited, as only a modest decrease of adverse outcomes due to the first symptomatic phase is expected. With current clinical practice, no reduced AMD frequency, improved cognitive function, or reduced frequency of mitochondrial or treatment-related complications can be expected.
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Keywords: methylmalonic acidemia, MMA, NBS, newborn screening, PA, propionic acidemia, Genetics(clinical), Genetics, Journal Article
ISSN: 0141-8955
Publisher: Springer Netherlands
Note: Funding Information: We would like to thank the patients and their families for participation in this study. This work was supported by the personal Alexandre Suerman Stipend of the University Medical Centre Utrecht (H.A.H.) and by Stofwisselkracht (F.M. and M.W.). Guarantor for the article: P. M. van Hasselt declares that he will accept full responsibility for the work and the conduct of the study. He had access to the data and controlled the decision to publish. Publisher Copyright: © 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM Copyright: Copyright 2020 Elsevier B.V., All rights reserved.
(Peer reviewed)