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Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.

Abstract：

UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretically detect G6PD deficiency apart from galactose-1-phosphate uridyltransferase deficiency. In this study, we detected two patients with G6PD deficiency using the quantitative Beutler test which was recently developed in our laboratory. Both patients lacked erythrocyte G6PD activity but exhibited no clinical symptoms. Molecular analysis in patients 1 and 2 revealed two novel missense mutations of C853T causing R285C and A1220C causing K407T, respectively. Molecular rather than enzymatic analysis was required in familial studies to detect and diagnose the carrier state. To date these patients have avoided oxidant stress and haemolytic diatheses have not been induced. CONCLUSION:Our results indicate that the quantitative Beutler test can detect glucose-6-phosphate dehydrogenase deficiency of class 1 and 2 and is therefore useful for early intervention and prevention of haemolytic diathesis in patients with this disorder.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Okano Y,Fujimoto A,Miyagi T,Hirono A,Miwa S,Niihira S,Hirokawa H,Yamano Y

doi

10.1007/s004310000652

keywords:

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

105-8

issue

2

eissn

0340-6199

issn

1432-1076

journal_volume

160

pub_type

杂志文章

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