Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed

被引：32

作者：

Gallagher, RC

Cowan, TM

Goodman, SI

Enns, GA ^{[1
]}

机构：

[1] Stanford Univ, Sch Med, Dept Pediat, Div Genet, Stanford, CA 94305 USA

[2] Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA

[3] Univ Colorado, Sch Med, Dept Pediat, Denver, CO 80202 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2005年 / 86卷 / 03期

关键词：

glutaric aciduria type 1; low excretor; newborn screening; tandem mass spectrometry; dystonia;

D O I：

10.1016/j.ymgme.2005.08.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Glutaryl-CoA dehydrogenase deficiency (GA-I) is associated with the onset of irreversible, disabling dystonia between 3 and 18 months of age. Presymptomatic identification and treatment can prevent the devastating disability associated with this disorder. We report the retrospective analysis of the newborn blood spot of an affected child with a low excretor phenotype. The level of glutarylcarnitine was below the newborn screening program cut-off. This suggests that some cases of GA-I may be missed by newborn screening by tandem mass spectrometry. (c) 2005 Elsevier Inc. All rights reserved.

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页码：417 / 420

页数：4

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