Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2001 Feb;24(1):51-9.
doi: 10.1023/a:1005606805951.

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

K G Sim  1 , V Wiley, K Carpenter, B Wilcken
Affiliations

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

K G Sim et al. J Inherit Metab Dis. 2001 Feb.

Abstract

A neonate at risk for hepatic carnitine palmitoyltransferase I (L-CPT I) deficiency was investigated from birth. The free carnitine and acylcarnitine profile in dried whole blood filter paper samples collected at ages 1 and 4 days showed a markedly elevated concentration of free carnitine (141 and 142 micromol/L, respectively), normal concentrations of acetyl- and propionylcarnitine, with the near absence of all other species. The diagnosis was confirmed by in vitro fatty acid oxidation screening assays and enzyme assay in cultured skin fibroblasts. Retrospective study of the newborn whole blood sample of the index case showed a similar profile (free carnitine 181 micromol/L). The newborn population distribution of free carnitine (n = 143,981) showed that only three samples had free carnitine > 140 micromol/L (>99.9th centile), two were from L-CPT I-deficient neonates and one from a baby with sepsis. While there are other conditions that can cause elevated concentrations of free carnitine, an isolated elevation of free carnitine only in an apparently healthy term neonate warrants further investigation to exclude L-CPT I deficiency.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Pediatr Res. 1988 Sep;24(3):308-11 - PubMed
    1. Eur J Biochem. 1997 Feb 15;244(1):1-14 - PubMed
    1. Biochem J. 1997 Oct 1;327 ( Pt 1):225-31 - PubMed
    1. Pediatr Res. 1983 Jul;17(7):579-82 - PubMed
    1. Clin Chem. 1996 Mar;42(3):349-55 - PubMed

LinkOut - more resources