Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study,Journal of Inherited Metabolic Disease

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Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-12-03 , DOI: 10.1002/jimd.12335
E M Charlotte Märtner ₁ , Esther M Maier ₂ , Katharina Mengler ₁ , Eva Thimm ₃ , Katharina A Schiergens ₂ , Thorsten Marquardt ₄ , René Santer ₅ , Natalie Weinhold ₆ , Iris Marquardt ₇ , Anibh M Das ₈ , Peter Freisinger ₉ , Sarah C Grünert ₁₀ , Judith Vossbeck ₁₁ , Robert Steinfeld ₁₂ , Matthias R Baumgartner ₁₃ , Skadi Beblo ₁₄ , Andrea Dieckmann ₁₅ , Andrea Näke ₁₆ , Martin Lindner ₁₇ , Jana Heringer-Seifert ₁ , Dominic Lenz ₁ , Georg F Hoffmann ₁ , Chris Mühlhausen ₁₈ , Regina Ensenauer ₃ , Sven F Garbade ₁ , Stefan Kölker ₁ , Nikolas Boy ₁

Affiliation

Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Germany.
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
Division of Experimental Paediatrics and Metabolism, Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany.
University Children's Hospital, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Center for Chronically Sick Children, Berlin, Germany.
Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany.
Department of Paediatrics, Paediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany.
Children's Hospital Reutlingen, Reutlingen, Germany.
Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Department of Paediatric and Adolescent Medicine, Ulm University Medical School, Ulm, Germany.
Division of Paediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland.
Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany.
Centre for Inborn Metabolic Disorders, Department of Neuropaediatrics, Jena University Hospital, Jena, Germany.
Children's Hospital Carl Gustav Carus, Technical University Dresden, Germany.
Division of Paediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany.
Department of Paediatrics and Adolescent Medicine, University Medical Centre, Göttingen, Germany.

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.

中文翻译：

干预和非干预变量对 1 型戊二酸尿症人体测量长期发展的影响：一项全国性前瞻性多中心研究

1 型戊二酸尿症 (GA1) 是一种罕见的神经代谢疾病，由遗传性戊二酰辅酶 A 脱氢酶缺乏引起，主要影响大脑。通过新生儿筛查 (NBS) 进行早期识别可显着改善神经系统预后。目前尚不清楚推荐的治疗，特别是低赖氨酸饮食，是否安全或对人体测量的长期结果产生负面影响。这项全国性前瞻性、观察性、多中心研究包括 NBS 确定的 79 名患者，并调查了介入和非介入参数对体重、身长、体重指数 (BMI) 和头围以及神经系统参数的影响。坚持推荐的维持和紧急治疗 (ET) 对神经系统结果产生积极影响，并允许正常的人体测量发育直至成年。P = .023）和体长（平均 SDS -1.34；P = -.016）。一致地，纵向分析表明，随着时间的推移，严重肌张力障碍对体重和身长的发展有负面影响 ( P < .001)。大头畸形在女性（平均 SDS 0.56）中比在男性患者（平均 SDS -0.20；P = .049）中更常见，并且与低排泄患者（平均 SDS - 0.68；P = .016）。在 GA1 中，推荐的长期治疗是有效的，并且允许正常的人体测量学长期发育直至青春期，具有性别和排泄类型特异性差异。延迟的 ET 和严重的运动障碍导致不良的人体测量结果。

更新日期：2020-12-03

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