| Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency. | |
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MedLine Citation:
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PMID: 20619711 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article Date: 2010-06-09 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 101 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-16 Completed Date: 2011-01-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 84-6 Citation Subset: IM |
Affiliation:
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Department of Pathology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Carbon-Carbon Ligases
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deficiency* Carnitine / analogs & derivatives*, metabolism Female Humans Infant, Newborn Milk, Human / chemistry* Neonatal Screening |
| Chemical | |
Reg. No./Substance:
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0/3-hydroxyisovalerylcarnitine; 541-15-1/Carnitine; EC 6.4.-/Carbon-Carbon Ligases; EC 6.4.1.4/methylcrotonoyl-CoA carboxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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