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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
NLM
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

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