Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency.
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.
Eichhorst
Jeff
J
Department of Pathology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
Alcorn
Jane
J
Lepage
Joyce
J
Etter
Michele
M
Antonishyn
Nick A
NA
Fitterer
Braden
B
Birch
Duane A
DA
Agopsowicz
Kristin L
KL
Ruthnum
L
L
Greenberg
Cheryl R
CR
Lehotay
Denis C
DC
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
C098116:3-hydroxyisovalerylcarnitine; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D002331:Carnitine