Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

Abstract: Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient’s journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while promoting favorable development and long-term clinical outcomes. This study aims to assess growth in screened individuals with IMDs under different dietary regimes.

Anthropometric data (3585 prospective measures) of 350 screened individuals with IMDs born between 1999 and 2018 and participating in a German prospective multi-center observational study were evaluated. Overall, birth measures were within the reference ranges, suggesting unaffected prenatal growth, except for phenylketonuria (weight) and glutaric aciduria type 1 (head circumference). After birth, longitudinal analysis of anthropometric measures revealed a loss of height SDS (-0.5 SDS; P<0.0001), head circumference SDS (-0.2 SDS; P=0.0028), but not for weight SDS (0.1 SDS; P=0.5097) until the age of 18 years, while BMI SDS increased (0.4 SDS; P<0.0001). The significant interaction with age and diet groups was pronounced for the linear growth in individuals receiving diets being low in protein, long-chain triglycerides and galactose (p<0.001).

Identification by newborn screening and subsequent early (dietary) treatment cannot completely protect against alterations in growths. Disease specific (e.g. metabolic impairments, neurotoxins) and dietary (e.g. diets reduced in protein) factors may have an amplified impact on longitudinal growth. Therefore, alongside other important follow-ups, the continuous observation of the anthropometric development of screened individuals with IMDs needs special attention to early identify and support individuals at risk

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch
• Anmerkungen: Journal of inherited metabolic disease. - 46, 1 (2023) , 15-27, ISSN: 1573-2665

Klassifikation und Themen

• Klassifikation: Medizin, Gesundheit

Beteiligte, Orts- und Zeitangaben

• Ereignis: Veröffentlichung
• (wo): Freiburg
• (wer): Universität
• (wann): 2022
• Urheber: Mütze, Ulrike ; Garbade, Sven ; Gleich, Florian ; Lindner, Martin ; Freisinger, Peter ; Hennermann, Julia B. ; Thimm, Eva ; Gramer, Gwendolyn ; Posset, Roland ; Krämer, Johannes ; Grünert, Sarah ; Hoffmann, Georg F. ; Kölker, Stefan

Weitere Informationen

• DOI: 10.1002/jimd.12563
• URN: urn:nbn:de:bsz:25-freidok-2299222
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 25.03.2025, 13:50 MEZ