Smith, W E

Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. [electronic resource] - Pediatrics May 2001 - 1184-7 p. digital

Publication Type: Case Reports; Journal Article

1098-4275

10.1542/peds.107.5.1184 doi


Consanguinity
Diagnosis, Differential
Diagnostic Errors
Dystonia--etiology
Female
Gastroenteritis--drug therapy
Glutarates--blood
Glutaryl-CoA Dehydrogenase
Histamine H1 Antagonists--adverse effects
Humans
Infant
Infant, Newborn
Mass Spectrometry
Metabolism, Inborn Errors--diagnosis
Neonatal Screening
Oxidoreductases--deficiency
Oxidoreductases Acting on CH-CH Group Donors
Promethazine--adverse effects