Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

Author:

Schnabel Elena1ORCID,Kölker Stefan1ORCID,Gleich Florian1ORCID,Feyh Patrik1,Hörster Friederike1ORCID,Haas Dorothea1ORCID,Fang-Hoffmann Junmin1,Morath Marina1,Gramer Gwendolyn12ORCID,Röschinger Wulf3,Garbade Sven F.1ORCID,Hoffmann Georg F.1,Okun Jürgen G.1,Mütze Ulrike1ORCID

Affiliation:

1. Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany

2. Department for Inborn Metabolic Diseases, University Children’s Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany

3. Labor Becker MVZ GbR, Newborn Screening Unit, 81671 Munich, Germany

Abstract

Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders and neonatal vitamin B12 deficiency, and report on the identification of cofactor-responsive disease variants. This evaluation of the previously established combined multiple-tier NBS algorithm is part of the prospective pilot study “NGS2025” from August 2016 to September 2022. In 548,707 newborns, the combined algorithm was applied and led to positive NBS results in 458 of them. Overall, 166 newborns (prevalence 1: 3305) were confirmed (positive predictive value: 0.36); specifically, methylmalonic acidurias (N = 5), propionic acidemia (N = 4), remethylation disorders (N = 4), cystathionine beta-synthase (CBS) deficiency (N = 1) and neonatal vitamin B12 deficiency (N = 153). The majority of the identified newborns were asymptomatic at the time of the first NBS report (total: 161/166, inherited metabolic diseases: 9/14, vitamin B12 deficiency: 153/153). Three individuals were cofactor-responsive (methylmalonic acidurias: 2, CBS deficiency: 1), and could be treated by vitamin B12, vitamin B6 respectively, only. In conclusion, the combined NBS algorithm is technically feasible, allows the identification of attenuated and severe disease courses and can be considered to be evaluated for inclusion in national NBS panels.

Funder

Dietmar Hopp Foundation

Publisher

MDPI AG

Subject

Food Science,Nutrition and Dietetics

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