Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

F. Invernizzi, A. B. Burlina, A. Donadio, G. Giordano, F. Taroni, B. Garavaglia

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)601-602
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume24
Issue number5
DOIs
Publication statusPublished - 2001

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Carnitine
Fatty Liver
Bradycardia
Transferases
Carnitine palmitoyl transferase 1A deficiency
acylcarnitine

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. / Invernizzi, F.; Burlina, A. B.; Donadio, A.; Giordano, G.; Taroni, F.; Garavaglia, B.

In: Journal of Inherited Metabolic Disease, Vol. 24, No. 5, 2001, p. 601-602.

Research output: Contribution to journalArticle

Invernizzi, F. ; Burlina, A. B. ; Donadio, A. ; Giordano, G. ; Taroni, F. ; Garavaglia, B. / Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. In: Journal of Inherited Metabolic Disease. 2001 ; Vol. 24, No. 5. pp. 601-602.
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