Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.
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.
Invernizzi
F
F
Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Burlina
A B
AB
Donadio
A
A
Giordano
G
G
Taroni
F
F
Garavaglia
B
B
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
D000108:Acetylcarnitine; D002334:Carnitine O-Palmitoyltransferase