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

Pediatrics
W E SmithP S Lesser

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.

Citations

Dec 2, 2008·Analytical and Bioanalytical Chemistry·Ralph Fingerhut, Bernhard Olgemöller
Apr 8, 2006·Journal of Inherited Metabolic Disease·D M FrazierJ Muenzer
Jun 10, 2006·Journal of Inherited Metabolic Disease·M LindnerS Kölker
Dec 25, 2009·Journal of Inherited Metabolic Disease·Julia B HennermannJeannette Klein
Jun 23, 2010·Journal of Inherited Metabolic Disease·Dau-Ming NiuKwang-Jen Hsiao
Mar 25, 2011·Journal of Inherited Metabolic Disease·Stefan KölkerPeter Burgard
Oct 19, 2011·Journal of Inherited Metabolic Disease·Tereza MooreTina M Cowan
Jul 10, 2002·Clinica Chimica Acta; International Journal of Clinical Chemistry·Kevin H Carpenter, Veronica Wiley
Jul 27, 2002·Annual Review of Genomics and Human Genetics·Donald H ChaceEdwin W Naylor
May 10, 2008·Journal of Neurosurgery·Lewis C HouStephen L Huhn
Nov 7, 2008·Expert Review of Neurotherapeutics·Kavita Kalidas, Réza Behrouz
Jul 14, 2012·Advances in Pediatrics·Angela SunDerek A Wong
Feb 21, 2008·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Chin-Tung HsiehYin-Hsiu Chien
Dec 26, 2006·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Stanley H KormanGajja S Salomons
May 11, 2004·Seminars in Pediatric Neurology·Barry S Russman, Stephen Ashwal
Jun 2, 2006·The Journal of Pediatrics·Deborah MarsdenHarvey L Levy
Feb 10, 2006·Molecular Genetics and Metabolism·Alice A BasingerJoseph Muenzer
Jun 28, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Osama Y Al-DirbashiMohamed S Rashed
Jun 26, 2012·Molecular Genetics and Metabolism·Krista ViauNicola Longo
Aug 25, 2010·Molecular Genetics and Metabolism·George van der WattHoward Henderson
May 4, 2004·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Mårten KyllermanUlrika von Döbeln
Nov 18, 2016·Journal of Inherited Metabolic Disease·Nikolas BoyUNKNOWN Additional individual contributors
Mar 18, 2017·Journal of the Chinese Medical Association : JCMA·Fang-Chih TsaiDau-Ming Niu
Aug 29, 2003·Pediatric Annals·Marsha K Fearing, Deborah Marsden
Oct 27, 2004·Journal of Inherited Metabolic Disease·M LindnerG F Hoffmann
Jul 3, 2021·International Journal of Neonatal Screening·Johannes SpengerRalph Fingerhut

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