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

Journal Article (Journal Article)

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

Full Text

Duke Authors

Cited Authors

  • Smith, WE; Millington, DS; Koeberl, DD; Lesser, PS

Published Date

  • May 2001

Published In

Volume / Issue

  • 107 / 5

Start / End Page

  • 1184 - 1187

PubMed ID

  • 11331707

Electronic International Standard Serial Number (EISSN)

  • 1098-4275

Digital Object Identifier (DOI)

  • 10.1542/peds.107.5.1184


  • eng

Conference Location

  • United States