Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
| Autor: | Chris Mühlhausen, Katharina Mengler, Eva Thimm, Martin Lindner, Stefan Kölker, Anibh M. Das, Regina Ensenauer, E. M. Charlotte Märtner, Esther M. Maier, Jana Heringer-Seifert, Dominic Lenz, Matthias R. Baumgartner, Judith Vossbeck, Peter Freisinger, Sven F. Garbade, Skadi Beblo, Katharina A. Schiergens, Robert Steinfeld, Sarah C. Grünert, Iris Marquardt, Natalie Weinhold, René Santer, Andrea Dieckmann, Georg F. Hoffmann, Andrea Näke, Nikolas Boy, Thorsten Marquardt |
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| Přispěvatelé: | University of Zurich, Boy, Nikolas |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
Pediatrics Glutaric aciduria type 1 Body Mass Index Germany Prospective Studies Child Genetics (clinical) 2. Zero hunger Dystonia 0303 health sciences Anthropometry Glutaryl-CoA Dehydrogenase Brain Diseases Metabolic 030305 genetics & heredity 3. Good health Child Preschool Female medicine.symptom medicine.medical_specialty 2716 Genetics (clinical) Adolescent 610 Medicine & health Young Adult 03 medical and health sciences Neonatal Screening Sex Factors 1311 Genetics Genetics medicine Humans Amino Acid Metabolism Inborn Errors Emergency Treatment 030304 developmental biology Newborn screening business.industry Body Weight Infant Newborn Macrocephaly Infant medicine.disease Body Height Megalencephaly 10036 Medical Clinic Observational study business Body mass index Glutaric Acidemia Type 1 |
| Popis: | Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl-CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy, particular low lysine diet, is safe or negatively affects anthropometric long-term outcome. This national prospective, observational, multi-centre study included 79 patients identified by NBS and investigated effects of interventional and non-interventional parameters on body weight, body length, body mass index (BMI) and head circumference as well as neurological parameters. Adherence to recommended maintenance and emergency treatment (ET) had a positive impact on neurologic outcome and allowed normal anthropometric development until adulthood. In contrast, non-adherence to ET, resulting in increased risk of dystonia, had a negative impact on body weight (mean SDS -1.07; P = .023) and body length (mean SDS -1.34; P = -.016). Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (P < .001). Macrocephaly was more often found in female (mean SDS 0.56) than in male patients (mean SDS -0.20; P = .049), and also in individuals with high excreter phenotype (mean SDS 0.44) compared to low excreter patients (mean SDS -0.68; P = .016). In GA1, recommended long-term treatment is effective and allows for normal anthropometric long-term development up to adolescence, with gender- and excreter type-specific variations. Delayed ET and severe movement disorder result in poor anthropometric outcome. |
| Databáze: | OpenAIRE |
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