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

Publication ,  Journal Article
Smith, WE; Millington, DS; Koeberl, DD; Lesser, PS
Published in: Pediatrics
May 2001

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.

Duke Scholars

Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

May 2001

Volume

107

Issue

5

Start / End Page

1184 / 1187

Location

United States

Related Subject Headings

  • Promethazine
  • Pediatrics
  • Oxidoreductases Acting on CH-CH Group Donors
  • Oxidoreductases
  • Neonatal Screening
  • Metabolism, Inborn Errors
  • Mass Spectrometry
  • Infant, Newborn
  • Infant
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
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Smith, W. E., Millington, D. S., Koeberl, D. D., & Lesser, P. S. (2001). Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics, 107(5), 1184–1187. https://doi.org/10.1542/peds.107.5.1184
Smith, W. E., D. S. Millington, D. D. Koeberl, and P. S. Lesser. “Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.Pediatrics 107, no. 5 (May 2001): 1184–87. https://doi.org/10.1542/peds.107.5.1184.
Smith WE, Millington DS, Koeberl DD, Lesser PS. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics. 2001 May;107(5):1184–7.
Smith, W. E., et al. “Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.Pediatrics, vol. 107, no. 5, May 2001, pp. 1184–87. Pubmed, doi:10.1542/peds.107.5.1184.
Smith WE, Millington DS, Koeberl DD, Lesser PS. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics. 2001 May;107(5):1184–1187.

Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

May 2001

Volume

107

Issue

5

Start / End Page

1184 / 1187

Location

United States

Related Subject Headings

  • Promethazine
  • Pediatrics
  • Oxidoreductases Acting on CH-CH Group Donors
  • Oxidoreductases
  • Neonatal Screening
  • Metabolism, Inborn Errors
  • Mass Spectrometry
  • Infant, Newborn
  • Infant
  • Humans