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Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises. Three decades after its description, the natural history and how to treat this disorder are still incompletely understood. To study which variables influenced the outcome, we conducted an international cross-sectional study in 35 metabolic centers. Our main outcome measures were onset and neurologic sequelae of acute encephalopathic crises. A total of 279 patients (160 male, 119 female) were included who were diagnosed clinically after clinical presentation (n= 218) or presymptomatically by neonatal screening (n= 23), high-risk screening (n= 24), or macrocephaly (n= 14). Most symptomatic patients (n= 185) had encephalopathic crises, characteristically resulting in bilateral striatal damage and dystonia, secondary …