Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

F Invernizzi; A B Burlina; A Donadio; G Giordano; F Taroni; B Garavaglia

doi:10.1023/a:1012476029536

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

J Inherit Metab Dis. 2001 Oct;24(5):601-2. doi: 10.1023/a:1012476029536.

Authors

F Invernizzi¹, A B Burlina, A Donadio, G Giordano, F Taroni, B Garavaglia

Affiliation

¹ Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico C. Besta, Milan, Italy.

PMID: 11757589
DOI: 10.1023/a:1012476029536

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.

Publication types

Case Reports

MeSH terms

Acetylcarnitine / blood
Bradycardia / etiology
Carnitine O-Palmitoyltransferase / deficiency*
Fatal Outcome
Heart Arrest / etiology
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors / enzymology*
Lipid Metabolism, Inborn Errors / pathology
Liver / pathology
Male

Substances

Acetylcarnitine
Carnitine O-Palmitoyltransferase