title: Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.
abstract: A neonate subsequently diagnosed with carnitine palmitoyltransferase I deficiency died at 34 h of untreatable bradycardia. There was fatty infiltration of the liver and increased free carnitine and reduced acylcarnitines in the blood.
authors.affiliation: Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Invernizzi
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
authors.forename: A
authors.initials: A
authors.lastname: Donadio
authors.forename: G
authors.initials: G
authors.lastname: Giordano
authors.forename: F
authors.initials: F
authors.lastname: Taroni
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
mesh_terms: D000108:Acetylcarnitine / Q000097:blood; D001919:Bradycardia / Q000209:etiology; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D017809:Fatal Outcome; D006323:Heart Arrest / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology* / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male
chemical_list: D000108:Acetylcarnitine; D002334:Carnitine O-Palmitoyltransferase