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Glutaric aciduria type 1 as a mimicker of abusive head trauma in the era of newborn screening
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DOI：10.1016/j.chiabu.2026.108212.png)
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Abstract
En 中文
Glutaric aciduria type 1 (GA1) is a cerebral organic aciduria which untreated may lead to metabolic crisis and the development of a complex movement disorder. In addition to the motor phenotype, early natural history studies reported a high incidence of spontaneous subdural hemorrhage (SDH). This has led to the inclusion of GA1 in the differential diagnosis of isolated SDH concerning for abusive head trauma and the widespread use of costly biochemical and molecular testing in this population. Contemporary newborn screening (NBS) methods enable presymptomatic detection of GA1, although false negatives have been reported.
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