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PEDIATRICS Vol. 107 No. 5 May 2001, pp. 1184-1187

EXPERIENCE AND REASON:
Glutaric Acidemia, Type I, Missed by Newborn Screening in an Infant With Dystonia Following Promethazine Administration

Received Jul 21, 2000; accepted Oct 5, 2000.

Wendy E. Smith

David S. Millington

Dwight D. Koeberl

Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham, NC 27710

Philip S. Lesser

Carolina Neurological Clinic Charlotte, NC 28203

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.

 Key words:  glutaric acidemia type I, inborn errors of metabolism, promethazine, dystonia, newborn screening.


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