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

Pediatrics

Volumn 107, Issue 5, 2001, Pages 1184-1187

  Smith, Wendy E ^a   Millington, David S ^a   Koeberl, Dwight D ^a   Lesser, Philip S ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b Carolina Neurological Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; BACLOFEN; CARNITINE; DIPHENHYDRAMINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; GLUTARYLCARNITINE; LYSINE; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; PROMETHAZINE; RIBOFLAVIN; TRYPTOPHAN; UNCLASSIFIED DRUG;

ACIDEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CATABOLISM; CLINICAL FEATURE; DIAGNOSTIC ERROR; DIET THERAPY; DYSTONIA; FEMALE; GASTROENTERITIS; HUMAN; INBORN ERROR OF METABOLISM; INFANT; NEWBORN SCREENING; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; VOMITING;

CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; DYSTONIA; FEMALE; GASTROENTERITIS; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HISTAMINE H1 ANTAGONISTS; HUMANS; INFANT; INFANT, NEWBORN; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PROMETHAZINE;

EID: 0035022471     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.107.5.1184     Document Type: Article

References (14)

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