Concepedia

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

Federica Invernizzi, Alberto Burlina, A. Donadio, Giuseppe Giordano, Franco Taroni, Barbara Garavaglia

Journal of Inherited Metabolic Disease · 2001 · 11 citations · 4 references

DOI

Concepts

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.

References

4

Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. The minor component is identical to the liver enzyme.

B C Weis, Victoria Esser, Daniel W. Foster et al. · Journal of Biological Chemistry · 1994 · 127 citations · Full text

, , +11

Features of carnitine palmitoyltransferase type I deficiency

S. E. Olpin, Jason D. Allen, James R. Bonham et al. · Journal of Inherited Metabolic Disease · 2001 · 53 citations

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Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase‐1 deficiency

Charles A. Stanley, F. Sunaryo, Daniel E. Hale et al. · Journal of Inherited Metabolic Disease · 1991 · 48 citations

, , +5

Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile

Keow Giak Sim, Veronica Wiley, Kevin Carpenter et al. · Journal of Inherited Metabolic Disease · 2001 · 27 citations

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