Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects

被引：23

作者：

Browning, MF

Larson, C

Strauss, A

Marsden, DL

机构：

[1] Childrens Hosp Boston, Dept Metab, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Boston, MA USA

[3] New England Newborn Screening Program, Jamaica Plain, MA USA

[4] Vanderbilt Childrens Hosp, Nashville, TN USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷 / 04期

关键词：

D O I：

10.1007/s10545-005-0545-4

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report two infants identified by tandem mass spectrometry (MS/MS) of neonatal blood spot acylcarnitines and confirmed by molecular genetic analysis to have long-chain fatty acid oxidation defects. In both cases, acylcarnitine concentrations in confirmatory plasma samples were normal. None the less, molecular testing identified trifunctional protein (TFP) deficiency (McKusick 600890) and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (McKusick 201475).

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页码：545 / 550

页数：6

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