Abstract
Glutaric aciduria type I is caused by an autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase, which gives rise to the glutaric acid and 3-hydroxyglotoric acidase as well as gluturyl carnitine in body fluid.efected patient can present with macrocephaly and acute dystonia secondry to striatal degeneration following infection and vaccination between 6 and 18 month. Here in, we reported five cases with macrocephaly, dystonia diagnosed with glutaric aciduria type I using the typical brain imaging and tandem mass spectrometry.
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