Boemer François, Schoos Roland, de Halleux Virginie, Kalenga Masendu, Debray François-Guillaume
Biochemical Genetics Laboratory, Human Genetics, CHU Liege, University of Liege, Belgium.
Biochemical Genetics Laboratory, Human Genetics, CHU Liege, University of Liege, Belgium.
Mol Genet Metab. 2014 Jan;111(1):52-4. doi: 10.1016/j.ymgme.2013.11.005. Epub 2013 Nov 19.
During an 18-month period, we noticed an alarming increase of newborn screening false positivity rate in identifying isovaleric acidemia. In 50 of 50 newborns presenting elevated C5-carnitine, we confirmed the presence of pivaloylcarnitine. Exogenous pivalate administration had been previously identified as the causal agent of this concern. No pivalic-ester prodrug is commercially available in Belgium, but pivalic derivates are also used in the cosmetic industry as emollient under the term "neopentanoate". We have identified neopentanoate-esters in a nipple-fissure unguent that was provided to young mothers. Ceasing distribution of this product hugely reduced the C5-carnitine false positivity rate.
在18个月的时间里，我们注意到新生儿筛查中异戊酸血症识别的假阳性率出现了惊人的上升。在50例C5-肉碱升高的新生儿中，我们证实了新戊酰肉碱的存在。先前已确定外源性新戊酸盐给药是造成这一问题的原因。比利时没有市售的新戊酸酯前药，但新戊酸衍生物在化妆品行业也被用作润肤剂，名称为“新戊酸酯”。我们在一种提供给年轻母亲的乳头皲裂软膏中发现了新戊酸酯。停止该产品的分发大幅降低了C5-肉碱的假阳性率。
