Document Detail

Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency.
MedLine Citation:
PMID:  20619711     Owner:  NLM     Status:  MEDLINE    
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.
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
Publication Detail:
Type:  Journal Article     Date:  2010-06-09
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  101     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-08-16     Completed Date:  2011-01-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  84-6     Citation Subset:  IM    
Department of Pathology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
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MeSH Terms
Carbon-Carbon Ligases / deficiency*
Carnitine / analogs & derivatives*,  metabolism
Infant, Newborn
Milk, Human / chemistry*
Neonatal Screening
Reg. No./Substance:
0/3-hydroxyisovalerylcarnitine; 541-15-1/Carnitine; EC 6.4.-/Carbon-Carbon Ligases; EC carboxylase

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