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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\u2010term outcome. This national prospective, observational, multi\u2010centre study included 79 patients identified by NBS and investigated effects of interventional and non\u2010interventional 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\u2010adherence to ET, resulting in increased risk of dystonia, had a negative impact on body weight (mean SDS \u22121.07; <jats:italic>P<\/jats:italic> = .023) and body length (mean SDS \u22121.34; <jats:italic>P<\/jats:italic> = \u2212.016). Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001). Macrocephaly was more often found in female (mean SDS 0.56) than in male patients (mean SDS \u22120.20; <jats:italic>P<\/jats:italic> = .049), and also in individuals with high excreter phenotype (mean SDS 0.44) compared to low excreter patients (mean SDS \u22120.68; <jats:italic>P<\/jats:italic> = .016). In GA1, recommended long\u2010term treatment is effective and allows for normal anthropometric long\u2010term development up to adolescence, with gender\u2010 and excreter type\u2010specific variations. Delayed ET and severe movement disorder result in poor anthropometric outcome.<\/jats:p>","DOI":"10.1002\/jimd.12335","type":"journal-article","created":{"date-parts":[[2020,12,4]],"date-time":"2020-12-04T02:20:16Z","timestamp":1607048416000},"page":"629-638","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Impact of interventional and non\u2010interventional variables on anthropometric long\u2010term development in glutaric aciduria type 1: A national prospective multi\u2010centre study"],"prefix":"10.1002","volume":"44","author":[{"given":"E. M. 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