Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

Jeff Eichhorst; 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

doi:10.1016/j.ymgme.2010.05.002

Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

Mol Genet Metab. 2010 Sep;101(1):84-6. doi: 10.1016/j.ymgme.2010.05.002. Epub 2010 Jun 9.

Authors

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

Affiliation

¹ Department of Pathology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

PMID: 20619711
DOI: 10.1016/j.ymgme.2010.05.002

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.

MeSH terms

Carbon-Carbon Ligases / deficiency*
Carnitine / analogs & derivatives*
Carnitine / metabolism
Female
Humans
Infant, Newborn
Milk, Human / chemistry*
Neonatal Screening

Substances

3-hydroxyisovalerylcarnitine
Carbon-Carbon Ligases
methylcrotonoyl-CoA carboxylase
Carnitine