Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.

摘要: We report a child initially diagnosed with promethazine-induced dystonia despite lack of response to diphenhydramine therapy. On further evaluation, the was glutaric acidemia, type I (GA-I), an autosomal recessive inborn error metabolism caused by deficiency glutaryl-CoA dehydrogenase. The characteristic clinical feature GA-I is acute encephalopathic and neurologic crisis typically occurring during catabolic state. Despite slow improvement, many patients do not fully recover from crisis, residual morbidity can be significant. Although newborn screening using tandem mass spectrometry expected enable presymptomatic diagnosis GA-I, this patient detected spectrometry. Therefore, high suspicion must maintained in evaluation childhood dystonia, even when results are reportedly normal.