The impact of screening for propionic and methylmalonic acidaemia

被引：34

作者：

Leonard, JV

Vijayaraghavan, S

Walter, JH

机构：

[1] Inst Child Hlth, Biochem Endocrinol & Metab Unit, London WC1N 1EH, England

[2] Royal Manchester Childrens Hosp, Willink Biochem Genet Unit, Manchester M27 1HA, Lancs, England

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2003年 / 162卷 / Suppl 1期

关键词：

neonatal screening; organic acidaemia; tandem mass spectrometry;

D O I：

10.1007/s00431-003-1345-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The outcome of the severe variants of propionic and methylmalonic acidaemia is not good. Patients with these disorders have increased concentrations of propionylcarnitine and using tandem mass spectrometry to detect this compound, it is possible to screen in the newborn period. Various criteria have been used to identify the patients but only a small number of patients have been diagnosed so far and some have been missed. Furthermore many will have already presented before the result of the screening test is available. Conclusion: It is not yet clear whether the outcome is better for those identified in screening programmes.

引用

页码：S21 / S24

页数：4

共 17 条

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