Literature DB >> 11757589

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.

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

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.

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Year:  2001        PMID： 11757589     DOI： 10.1023/a:1012476029536

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  4 in total

1.  Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.

Authors:  C A Stanley; F Sunaryo; D E Hale; J P Bonnefont; F Demaugre; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Features of carnitine palmitoyltransferase type I deficiency.

Authors:  S E Olpin; J Allen; J R Bonham; S Clark; P T Clayton; J Calvin; M Downing; K Ives; S Jones; N J Manning; R J Pollitt; S J Standing; M S Tanner
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

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

Authors:  K G Sim; V Wiley; K Carpenter; B Wilcken
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

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

Authors:  B C Weis; V Esser; D W Foster; J D McGarry
Journal:  J Biol Chem       Date:  1994-07-22       Impact factor: 5.157
  4 in total
  1 in total

Review 1.  L-Carnitine and Acetyl-L-carnitine Roles and Neuroprotection in Developing Brain.

Authors:  Gustavo C Ferreira; Mary C McKenna
Journal:  Neurochem Res       Date:  2017-05-16       Impact factor: 3.996
  1 in total

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