| Literature DB >> 20619711 |
Jeff Eichhorst1, Jane Alcorn, Joyce Lepage, Michele Etter, Nick A Antonishyn, Braden Fitterer, Duane A Birch, Kristin L Agopsowicz, L Ruthnum, Cheryl R Greenberg, Denis C Lehotay.
Abstract
We report a positive newborn screen for 3-hydroxyisovalerylcarnitine (C(5)OH) with an absence of 3-methylcrotonyl-coenzyme A carboxylase deficiency in the neonate. Subsequent blood tests demonstrated persistently elevated C(5)OH. Serial testing of the mother identified markedly elevated C(5)OH in both maternal blood and breast milk. High C(5)OH milk concentrations provide a significant source of C(5)OH to the nursing neonate and possibly explains its persistent elevation in the neonate, a commonly observed finding in maternal 3-MCC deficiency.Entities:
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Year: 2010 PMID： 20619711 DOI： 10.1016/j.ymgme.2010.05.002
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797