Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
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Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening. / Mütze, Ulrike; Garbade, Sven F; Gleich, Florian; Lindner, Martin; Freisinger, Peter; Hennermann, Julia B; Thimm, Eva; Gramer, Gwendolyn; Posset, Roland; Krämer, Johannes; Grünert, Sarah C; Hoffmann, Georg F; Kölker, Stefan.
In: J INHERIT METAB DIS, Vol. 46, No. 1, 01.2023, p. 15-27.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
AU - Mütze, Ulrike
AU - Garbade, Sven F
AU - Gleich, Florian
AU - Lindner, Martin
AU - Freisinger, Peter
AU - Hennermann, Julia B
AU - Thimm, Eva
AU - Gramer, Gwendolyn
AU - Posset, Roland
AU - Krämer, Johannes
AU - Grünert, Sarah C
AU - Hoffmann, Georg F
AU - Kölker, Stefan
N1 - © 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
PY - 2023/1
Y1 - 2023/1
N2 - 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 multicenter 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 standard deviation score (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 NBS and subsequent early (dietary) treatment cannot completely protect against alterations in growths. Disease-specific (e.g., metabolic impairments, neurotoxins) and dietary-specific (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.
AB - 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 multicenter 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 standard deviation score (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 NBS and subsequent early (dietary) treatment cannot completely protect against alterations in growths. Disease-specific (e.g., metabolic impairments, neurotoxins) and dietary-specific (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.
KW - Infant, Newborn
KW - Female
KW - Pregnancy
KW - Humans
KW - Adolescent
KW - Neonatal Screening
KW - Prospective Studies
KW - Metabolic Diseases/diagnosis
KW - Amino Acid Metabolism, Inborn Errors/diagnosis
U2 - 10.1002/jimd.12563
DO - 10.1002/jimd.12563
M3 - SCORING: Journal article
C2 - 36134599
VL - 46
SP - 15
EP - 27
JO - J INHERIT METAB DIS
JF - J INHERIT METAB DIS
SN - 0141-8955
IS - 1
ER -
