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Most untreated individuals present with acute onset of striatal damage before age 3 (to 6) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre\u2010symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and intensified emergency treatment during catabolic episodes, which, in combination, have substantially improved neurologic outcome. In contrast, start of treatment after onset of symptoms cannot reverse existing motor dysfunction caused by striatal damage. Dietary treatment can be relaxed after the vulnerable period for striatal damage, that is, age 6\u2009years. However, impact of dietary relaxation on long\u2010term outcomes is still unclear. This third revision of evidence\u2010based recommendations aims to re\u2010evaluate previous recommendations (Boy et al., J Inherit Metab Dis, 2017;40(1):75\u2013101; Kolker et al., J Inherit Metab Dis 2011;34(3):677\u2013694; Kolker et al., J Inherit Metab Dis, 2007;30(1):5\u201322) and to implement new research findings on the evolving phenotypic diversity as well as the impact of non\u2010interventional variables and treatment quality on clinical outcomes.<\/jats:p>","DOI":"10.1002\/jimd.12566","type":"journal-article","created":{"date-parts":[[2022,10,12]],"date-time":"2022-10-12T03:39:26Z","timestamp":1665545966000},"page":"482-519","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third 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