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Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency
Author(s) -
Invernizzi F.,
Burlina A. B.,
Donadio A.,
Giordano G.,
Taroni F.,
Garavaglia B.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1012476029536
Subject(s) - carnitine , carnitine o palmitoyltransferase , medicine , endocrinology , bradycardia , presentation (obstetrics) , beta oxidation , metabolism , surgery , blood pressure , heart rate
A neonate subsequently diagnosed with carnitine palmitoyl‐transferase 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.