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

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• 作者：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
• 关键词：Newborn screening ; 3-MCC deficiency ; 3-OH isovalerylcarnitine ; Carnitine transporters ; Breast milk ; 3-Methylcrotonylglycinuria ; Organic acidurias
• 刊名：Molecular Genetics and Metabolism
• 出版年：2010
• 出版时间：September 2010
• 年：2010
• 卷：101
• 期：1
• 页码：84-86
• 全文大小：151 K

文摘

We report a positive newborn screen for 3-hydroxyisovalerylcarnitine (C₅OH) with an absence of 3-methylcrotonyl-coenzyme A carboxylase deficiency in the neonate. Subsequent blood tests demonstrated persistently elevated C₅OH. Serial testing of the mother identified markedly elevated C₅OH in both maternal blood and breast milk. High C₅OH milk concentrations provide a significant source of C₅OH to the nursing neonate and possibly explains its persistent elevation in the neonate, a commonly observed finding in maternal 3-MCC deficiency.