title: Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.
abstract: 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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: W E
authors.initials: WE
authors.lastname: Smith
authors.forename: D S
authors.initials: DS
authors.lastname: Millington
authors.forename: D D
authors.initials: DD
authors.lastname: Koeberl
authors.forename: P S
authors.initials: PS
authors.lastname: Lesser
mesh_terms: D003241:Consanguinity; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004421:Dystonia / Q000209:etiology*; D005260:Female; D005759:Gastroenteritis / Q000188:drug therapy; D005977:Glutarates / Q000097:blood; D050770:Glutaryl-CoA Dehydrogenase; D006634:Histamine H1 Antagonists / Q000009:adverse effects; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011398:Promethazine / Q000009:adverse effects
chemical_list: D005977:Glutarates; D006634:Histamine H1 Antagonists; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; D011398:Promethazine; C035736:glutaric acid