title: Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency.
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.
authors.affiliation: Department of Pathology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
authors.forename: Jeff
authors.initials: J
authors.lastname: Eichhorst
authors.forename: Jane
authors.initials: J
authors.lastname: Alcorn
authors.forename: Joyce
authors.initials: J
authors.lastname: Lepage
authors.forename: Michele
authors.initials: M
authors.lastname: Etter
authors.forename: Nick A
authors.initials: NA
authors.lastname: Antonishyn
authors.forename: Braden
authors.initials: B
authors.lastname: Fitterer
authors.forename: Duane A
authors.initials: DA
authors.lastname: Birch
authors.forename: Kristin L
authors.initials: KL
authors.lastname: Agopsowicz
authors.forename: L
authors.initials: L
authors.lastname: Ruthnum
authors.forename: Cheryl R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: Denis C
authors.initials: DC
authors.lastname: Lehotay
mesh_terms: D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008895:Milk, Human / Q000737:chemistry*; D015997:Neonatal Screening
chemical_list: C098116:3-hydroxyisovalerylcarnitine; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D002331:Carnitine